Author: "Lindblom, A. (Annika)" - Searchworks@Jio Institute Digital Library Search Results

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1. Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Author: Ahearn, T. U. (Thomas U.), Zhang, H. (Haoyu), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Bolla, M. K. (Manjeet K.), Dennis, J. (Joe), Dunning, A. M. (Alison M.), Lush, M. (Michael), Wang, Q. (Qin), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Baten, A. (Adinda), Becher, H. (Heiko), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brooks-Wilson, A. (Angela), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Buys, S. S. (Saundra S.), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dork, T. (Thilo), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Floris, G. (Giuseppe), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Harkness, E. F. (Elaine F.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Jakimovska, M. (Milena), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kauppila, S. (Saila), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Kyriacou, K. (Kyriacos), Lambrechts, D. (Diether), Lee, D. G. (Derrick G.), Lindblom, A. (Annika), Linet, M. (Martha), Lissowska, J. (Jolanta), Llaneza, A. (Ana), Lo, W.-Y. (Wing-Yee), MacInnis, R. J. (Robert J.), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nodora, J. (Jesse), Offit, K. (Kenneth), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peto, J. (Julian), Pita, G. (Guillermo), Plaseska-Karanfilska, D. (Dijana), Prentice, R. (Ross), Punie, K. (Kevin), Pylkas, K. (Katri), Radice, P. (Paolo), Rennert, G. (Gad), Romero, A. (Atocha), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sampson, S. (Sarah), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Schottker, B. (Ben), Sherman, M. E. (Mark E.), Shu, X.-O. (Xiao-Ou), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Torres, D. (Diana), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), van Deurzen, C. H. (Carolien H. M.), van Veen, E. M. (Elke M.), Wagner, P. (Philippe), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Wesseling, J. (Jelle), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zheng, W. (Wei), Couch, F. J. (Fergus J.), Simard, J. (Jacques), Kraft, P. (Peter), Easton, D. F. (Douglas F.), Pharoah, P. D. (Paul D. P.), Schmidt, M. K. (Marjanka K.), Garcia-Closas, M. (Montserrat), Chatterjee, N. (Nilanjan), Ahearn, T. U. (Thomas U.), Zhang, H. (Haoyu), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Bolla, M. K. (Manjeet K.), Dennis, J. (Joe), Dunning, A. M. (Alison M.), Lush, M. (Michael), Wang, Q. (Qin), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Baten, A. (Adinda), Becher, H. (Heiko), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brooks-Wilson, A. (Angela), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Buys, S. S. (Saundra S.), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dork, T. (Thilo), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Floris, G. (Giuseppe), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Harkness, E. F. (Elaine F.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Jakimovska, M. (Milena), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kauppila, S. (Saila), Keeman, R. (Renske), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kubelka-Sabit, K. (Katerina), Kurian, A. W. (Allison W.), Kyriacou, K. (Kyriacos), Lambrechts, D. (Diether), Lee, D. G. (Derrick G.), Lindblom, A. (Annika), Linet, M. (Martha), Lissowska, J. (Jolanta), Llaneza, A. (Ana), Lo, W.-Y. (Wing-Yee), MacInnis, R. J. (Robert J.), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nodora, J. (Jesse), Offit, K. (Kenneth), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peto, J. (Julian), Pita, G. (Guillermo), Plaseska-Karanfilska, D. (Dijana), Prentice, R. (Ross), Punie, K. (Kevin), Pylkas, K. (Katri), Radice, P. (Paolo), Rennert, G. (Gad), Romero, A. (Atocha), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sampson, S. (Sarah), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Schottker, B. (Ben), Sherman, M. E. (Mark E.), Shu, X.-O. (Xiao-Ou), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Torres, D. (Diana), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), van Deurzen, C. H. (Carolien H. M.), van Veen, E. M. (Elke M.), Wagner, P. (Philippe), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Wesseling, J. (Jelle), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zheng, W. (Wei), Couch, F. J. (Fergus J.), Simard, J. (Jacques), Kraft, P. (Peter), Easton, D. F. (Douglas F.), Pharoah, P. D. (Paul D. P.), Schmidt, M. K. (Marjanka K.), Garcia-Closas, M. (Montserrat), and Chatterjee, N. (Nilanjan)
Abstract: Background: Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear. Methods: Among 106,571 invasive breast cancer cases and 95,762 controls of European ancestry with data on 173 breast cancer variants identified in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate variants in relation to multiple tumor features (ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and grade) adjusting for each other, and to intrinsic-like subtypes. Results: Eighty-five of 173 variants were associated with at least one tumor feature (false discovery rate < 5%), most commonly ER and grade, followed by PR and HER2. Models for intrinsic-like subtypes found nearly all of these variants (83 of 85) associated at p < 0.05 with risk for at least one luminal-like subtype, and approximately half (41 of 85) of the variants were associated with risk of at least one non-luminal subtype, including 32 variants associated with triple-negative (TN) disease. Ten variants were associated with risk of all subtypes in different magnitude. Five variants were associated with risk of luminal A-like and TN subtypes in opposite directions. Conclusion: This report demonstrates a high level of complexity in the etiology heterogeneity of breast cancer susceptibility variants and can inform investigations of subtype-specific risk prediction.
Published: 2022

2. Gene-environment interactions relevant to estrogen and risk of breast cancer:can gene-environment interactions be detected only among candidate SNPs from genome-wide association studies?

Author: Park, J. (JooYong), Choi, J.-Y. (Ji-Yeob), Choi, J. (Jaesung), Chung, S. (Seokang), Song, N. (Nan), Park, S. K. (Sue K.), Han, W. (Wonshik), Noh, D.-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Lee, J. W. (Jong Won), Kim, M. K. (Mi Kyung), Jee, S. H. (Sun Ha), Wen, W. (Wanqing), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Shah, M. (Mitul), Conroy, D. M. (Don M.), Harrington, P. A. (Patricia A.), Mayes, R. (Rebecca), Czene, K. (Kamila), Hall, P. (Per), Teras, L. R. (Lauren R.), Patel, A. V. (Alpa V.), Couch, F. J. (Fergus J.), Olson, J. E. (Janet E.), Sawyer, E. J. (Elinor J.), Roylance, R. (Rebecca), Bojesen, S. E. (Stig E.), Flyger, H. (Henrik), Lambrechts, D. (Diether), Baten, A. (Adinda), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Guenel, P. (Pascal), Truong, T. (Therese), Keeman, R. (Renske), Schmidt, M. K. (Marjanka K.), Wu, A. H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Cox, A. (Angela), Cross, S. S. (Simon S.), Andrulis, I. L. (Irene L.), Hopper, J. L. (John L.), Southey, M. C. (Melissa C.), Wu, P.-E. (Pei-Ei), Shen, C.-Y. (Chen-Yang), Fasching, P. A. (Peter A.), Ekici, A. B. (Arif B.), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Brenner, H. (Hermann), Arndt, V. (Volker), Jones, M. E. (Michael E.), Swerdlow, A. J. (Anthony J.), Hoppe, R. (Reiner), Ko, Y.-D. (Yon-Dschun), Hartman, M. (Mikael), Li, J. (Jingmei), Mannermaa, A. (Arto), Hartikainen, J. M. (Jaana M.), Benitez, J. (Javier), Gonzalez-Neira, A. (Anna), Haiman, C. A. (Christopher A.), Doerk, T. (Thilo), Bogdanova, N. V. (Natalia V.), Teo, S. H. (Soo Hwang), Mohd Taib, N. A. (Nur Aishah), Fletcher, O. (Olivia), Johnson, N. (Nichola), Grip, M. (Mervi), Winqvist, R. (Robert), Blomqvist, C. (Carl), Nevanlinna, H. (Heli), Lindblom, A. (Annika), Wendt, C. (Camilla), Kristensen, V. N. (Vessela N.), Tollenaar, R. A. (Rob A. E. M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Radice, P. (Paolo), Bonanni, B. (Bernardo), Hamann, U. (Ute), Manoochehri, M. (Mehdi), Lacey, J. V. (James V.), Martinez, M. E. (Maria Elena), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Yoo, K.-Y. (Keun-Young), Kang, D. (Daehee), Park, J. (JooYong), Choi, J.-Y. (Ji-Yeob), Choi, J. (Jaesung), Chung, S. (Seokang), Song, N. (Nan), Park, S. K. (Sue K.), Han, W. (Wonshik), Noh, D.-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Lee, J. W. (Jong Won), Kim, M. K. (Mi Kyung), Jee, S. H. (Sun Ha), Wen, W. (Wanqing), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Shah, M. (Mitul), Conroy, D. M. (Don M.), Harrington, P. A. (Patricia A.), Mayes, R. (Rebecca), Czene, K. (Kamila), Hall, P. (Per), Teras, L. R. (Lauren R.), Patel, A. V. (Alpa V.), Couch, F. J. (Fergus J.), Olson, J. E. (Janet E.), Sawyer, E. J. (Elinor J.), Roylance, R. (Rebecca), Bojesen, S. E. (Stig E.), Flyger, H. (Henrik), Lambrechts, D. (Diether), Baten, A. (Adinda), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Guenel, P. (Pascal), Truong, T. (Therese), Keeman, R. (Renske), Schmidt, M. K. (Marjanka K.), Wu, A. H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Cox, A. (Angela), Cross, S. S. (Simon S.), Andrulis, I. L. (Irene L.), Hopper, J. L. (John L.), Southey, M. C. (Melissa C.), Wu, P.-E. (Pei-Ei), Shen, C.-Y. (Chen-Yang), Fasching, P. A. (Peter A.), Ekici, A. B. (Arif B.), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Brenner, H. (Hermann), Arndt, V. (Volker), Jones, M. E. (Michael E.), Swerdlow, A. J. (Anthony J.), Hoppe, R. (Reiner), Ko, Y.-D. (Yon-Dschun), Hartman, M. (Mikael), Li, J. (Jingmei), Mannermaa, A. (Arto), Hartikainen, J. M. (Jaana M.), Benitez, J. (Javier), Gonzalez-Neira, A. (Anna), Haiman, C. A. (Christopher A.), Doerk, T. (Thilo), Bogdanova, N. V. (Natalia V.), Teo, S. H. (Soo Hwang), Mohd Taib, N. A. (Nur Aishah), Fletcher, O. (Olivia), Johnson, N. (Nichola), Grip, M. (Mervi), Winqvist, R. (Robert), Blomqvist, C. (Carl), Nevanlinna, H. (Heli), Lindblom, A. (Annika), Wendt, C. (Camilla), Kristensen, V. N. (Vessela N.), Tollenaar, R. A. (Rob A. E. M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Radice, P. (Paolo), Bonanni, B. (Bernardo), Hamann, U. (Ute), Manoochehri, M. (Mehdi), Lacey, J. V. (James V.), Martinez, M. E. (Maria Elena), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Yoo, K.-Y. (Keun-Young), and Kang, D. (Daehee)
Abstract: In this study we aim to examine gene–environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean breast cancer cases and 2052 controls in the case-control study, the Seoul Breast Cancer Study (SEBCS). A total of 11,555 SNPs from the 137 candidate genes were included in the GxE analyses with eight established environmental factors. A replication test was conducted by using an independent population from the Breast Cancer Association Consortium (BCAC), with 62,485 Europeans and 9047 Asians. The GxE tests were performed by using two-step methods in GxEScan software. Two interactions were found in the SEBCS. The first interaction was shown between rs13035764 of NCOA1 and age at menarche in the GE|2df model (p-2df = 1.2 × 10−3). The age at menarche before 14 years old was associated with the high risk of breast cancer, and the risk was higher when subjects had homozygous minor allele G. The second GxE was shown between rs851998 near ESR1 and height in the GE|2df model (p-2df = 1.1 × 10−4). Height taller than 160 cm was associated with a high risk of breast cancer, and the risk increased when the minor allele was added. The findings were not replicated in the BCAC. These results would suggest specificity in Koreans for breast cancer risk.
Published: 2021

3. Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Author: Escala-Garcia, M. (Maria), Canisius, S. (Sander), Keeman, R. (Renske), Beesley, J. (Jonathan), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Augustinsson, A. (Annelie), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bermisheva, M. (Marina), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Couch, F. J. (Fergus J.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dork, T. (Thilo), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Geisler, J. (Juergen), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hartikainen, J. M. (Jaana M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Hunter, D. J. (David J.), Jacot, W. (William), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Khusnutdinova, E. (Elza), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Luben, R. N. (Robert N.), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa V.), Peterlongo, P. (Paolo), Pharoah, P. D. (Paul D. P.), Punie, K. (Kevin), Radice, P. (Paolo), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Romero, A. (Atocha), Roylance, R. (Rebecca), Ruediger, T. (Thomas), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Scott, C. (Christopher), Southey, M. C. (Melissa C.), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Teras, L. R. (Lauren R.), Thomas, E. (Emilie), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Michailidou, K. (Kyriaki), Chenevix-Trench, G. (Georgia), Bachelot, T. (Thomas), Schmidt, M. K. (Marjanka K.), Escala-Garcia, M. (Maria), Canisius, S. (Sander), Keeman, R. (Renske), Beesley, J. (Jonathan), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Augustinsson, A. (Annelie), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bermisheva, M. (Marina), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Couch, F. J. (Fergus J.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dork, T. (Thilo), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Geisler, J. (Juergen), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hartikainen, J. M. (Jaana M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hollestelle, A. (Antoinette), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Hunter, D. J. (David J.), Jacot, W. (William), Jakubowska, A. (Anna), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Khusnutdinova, E. (Elza), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Luben, R. N. (Robert N.), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa V.), Peterlongo, P. (Paolo), Pharoah, P. D. (Paul D. P.), Punie, K. (Kevin), Radice, P. (Paolo), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Romero, A. (Atocha), Roylance, R. (Rebecca), Ruediger, T. (Thomas), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schoemaker, M. J. (Minouk J.), Scott, C. (Christopher), Southey, M. C. (Melissa C.), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Teras, L. R. (Lauren R.), Thomas, E. (Emilie), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Michailidou, K. (Kyriaki), Chenevix-Trench, G. (Georgia), Bachelot, T. (Thomas), and Schmidt, M. K. (Marjanka K.)
Abstract: Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10−8 and 4.42 × 10−8). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A. However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations.
Published: 2021

4. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Author: Morra, A. (Anna), Escala-Garcia, M. (Maria), Beesley, J. (Jonathan), Keeman, R. (Renske), Canisius, S. (Sander), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Freeman, L. E. (Laura E. Beane), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Bruening, T. (Thomas), Buys, S. S. (Saundra S.), Caan, B. (Bette), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Cheng, T. D. (Ting-Yuan David), Clarke, C. L. (Christine L.), Colonna, S. V. (Sarah, V), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Dork, T. (Thilo), Dossus, L. (Laure), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Fritschi, L. (Lin), Gago-Dominguez, M. (Manuela), Garcia-Saenz, J. A. (Jose A.), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guenel, P. (Pascal), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hart, S. N. (Steven N.), Hartikainen, J. M. (Jaana M.), Hartmann, A. (Arndt), He, W. (Wei), Hooning, M. J. (Maartje J.), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Howell, A. (Anthony), Hunter, D. J. (David J.), Jager, A. (Agnes), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Keupers, M. (Machteld), Kitahara, C. M. (Cari M.), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Linet, M. (Martha), Luben, R. N. (Robert N.), Lush, M. (Michael), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peissel, B. (Bernard), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Prajzendanc, K. (Karolina), Prentice, R. (Ross), Presneau, N. (Nadege), Rack, B. (Brigitte), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Roylance, R. (Rebecca), Lubinski, J. (Jan), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Scott, C. (Christopher), Shah, M. (Mitul), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Hurson, A. N. (Amber N.), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Brauch, H. (Hiltrud), Garcia-Closas, M. (Montserrat), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Chenevix-Trench, G. (Georgia), Schmidt, M. K. (Marjanka K.), Morra, A. (Anna), Escala-Garcia, M. (Maria), Beesley, J. (Jonathan), Keeman, R. (Renske), Canisius, S. (Sander), Ahearn, T. U. (Thomas U.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Auer, P. L. (Paul L.), Augustinsson, A. (Annelie), Freeman, L. E. (Laura E. Beane), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brenner, H. (Hermann), Bruening, T. (Thomas), Buys, S. S. (Saundra S.), Caan, B. (Bette), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Cheng, T. D. (Ting-Yuan David), Clarke, C. L. (Christine L.), Colonna, S. V. (Sarah, V), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Dork, T. (Thilo), Dossus, L. (Laure), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Flyger, H. (Henrik), Fritschi, L. (Lin), Gago-Dominguez, M. (Manuela), Garcia-Saenz, J. A. (Jose A.), Giles, G. G. (Graham G.), Grip, M. (Mervi), Guenel, P. (Pascal), Guendert, M. (Melanie), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hart, S. N. (Steven N.), Hartikainen, J. M. (Jaana M.), Hartmann, A. (Arndt), He, W. (Wei), Hooning, M. J. (Maartje J.), Hoppe, R. (Reiner), Hopper, J. L. (John L.), Howell, A. (Anthony), Hunter, D. J. (David J.), Jager, A. (Agnes), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jung, A. Y. (Audrey Y.), Kaaks, R. (Rudolf), Keupers, M. (Machteld), Kitahara, C. M. (Cari M.), Koutros, S. (Stella), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kurian, A. W. (Allison W.), Lacey, J. V. (James, V), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Linet, M. (Martha), Luben, R. N. (Robert N.), Lush, M. (Michael), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), Michailidou, K. (Kyriaki), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Orr, N. (Nick), Park-Simon, T.-W. (Tjoung-Won), Patel, A. V. (Alpa, V), Peissel, B. (Bernard), Peterlongo, P. (Paolo), Plaseska-Karanfilska, D. (Dijana), Prajzendanc, K. (Karolina), Prentice, R. (Ross), Presneau, N. (Nadege), Rack, B. (Brigitte), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Roylance, R. (Rebecca), Lubinski, J. (Jan), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Scott, C. (Christopher), Shah, M. (Mitul), Smichkoska, S. (Snezhana), Southey, M. C. (Melissa C.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teras, L. R. (Lauren R.), Terry, M. B. (Mary Beth), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Vachon, C. M. (Celine M.), Wang, Q. (Qin), Hurson, A. N. (Amber N.), Winqvist, R. (Robert), Wolk, A. (Alicja), Ziogas, A. (Argyrios), Brauch, H. (Hiltrud), Garcia-Closas, M. (Montserrat), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Chenevix-Trench, G. (Georgia), and Schmidt, M. K. (Marjanka K.)
Abstract: Background: Given the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients. Methods: We performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, tumor grade, age, and type of systemic treatment. Analyses were based on 91,686 female patients of European ancestry from the Breast Cancer Association Consortium, including 7531 breast cancer-specific deaths over a median follow-up of 8.1 years. Cox regression was used to assess associations of common germline variants with 15-year and 5-year breast cancer-specific survival. We assessed the probability of these associations being true positives via the Bayesian false discovery probability (BFDP & 0.15). Results: Evidence of associations with breast cancer-specific survival was observed in three patient subgroups, with variant rs5934618 in patients with grade 3 tumors (15-year-hazard ratio (HR) [95% confidence interval (CI)] 1.32 [1.20, 1.45], P = 1.4E−08, BFDP = 0.01, per G allele); variant rs4679741 in patients with ER-positive tumors treated with endocrine therapy (15-year-HR [95% CI] 1.18 [1.11, 1.26], P = 1.6E−07, BFDP = 0.09, per G allele); variants rs1106333 (15-year-HR [95% CI] 1.68 [1.39,2.03], P = 5.6E−08, BFDP = 0.12, per A allele) and rs78754389 (5-year-HR [95% CI] 1.79 [1.46,2.20], P = 1.7E−08, BFDP = 0.07, per A allele), in patients with ER-negative tumors treated with chemotherapy. Conclusions: We found evidence of four loci associated with breast cancer-specific survival within three patient subgroups. There was limited evidence for the existence of associations in other patient subgroups. However, the power for many subgroups is limited due to the low number of events. Even so, our results suggest that the impact of common germline genetic varia
Published: 2021

5. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author: Zhang, H. (Haoyu), Ahearn, T. U. (Thomas U.), Lecarpentier, J. (Julie), Barnes, D. (Daniel), Beesley, J. (Jonathan), Qi, G. (Guanghao), Hang, X. (Xia), O'Mara, T. A. (Tracy A.), Zhao, N. (Ni), Bolla, M. K. (Manjeet K.), Dunning, A. M. (Alison M.), Dennis, J. (Joe), Wang, Q. (Qin), Abu Ful, Z. (Zumuruda), Aittomaki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Arun, B. K. (Banu K.), Auer, P. L. (Paul L.), Azzollini, J. (Jacopo), Barrowdale, D. (Daniel), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bialkowska, K. (Katarzyna), Blanco, A. (Ana), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Bondavalli, D. (Davide), Borg, A. (Ake), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Briceno, I. (Ignacio), Broeks, A. (Annegien), Brucker, S. Y. (Sara Y.), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Buys, S. S. (Saundra S.), Byers, H. (Helen), Caldes, T. (Trinidad), Caligo, M. A. (Maria A.), Calvello, M. (Mariarosaria), Campa, D. (Daniele), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Christiaens, M. (Melissa), Christiansen, H. (Hans), Chung, W. K. (Wendy K.), Claes, K. B. (Kathleen B. M.), Clarke, C. L. (Christine L.), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Diez, O. (Orland), Domchek, S. M. (Susan M.), Doerk, T. (Thilo), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Foretova, L. (Lenka), Fostira, F. (Florentia), Friedman, E. (Eitan), Frost, D. (Debra), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garber, J. (Judy), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Gayther, S. A. (Simon A.), Giles, G. G. (Graham G.), Godwin, A. K. (Andrew K.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Greene, M. H. (Mark H.), Gronwald, J. (Jacek), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hake, C. R. (Christopher R.), Hall, P. (Per), Hamann, U. (Ute), Harkness, E. F. (Elaine F.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hillemanns, P. (Peter), Hogervorst, F. B. (Frans B. L.), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huebner, H. (Hanna), Hulick, P. J. (Peter J.), Imyanitov, E. N. (Evgeny N.), Isaacs, C. (Claudine), Izatt, L. (Louise), Jager, A. (Agnes), Jakimovska, M. (Milena), Jakubowska, A. (Anna), James, P. (Paul), Janavicius, R. (Ramunas), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Karlan, B. Y. (Beth Y.), Keeman, R. (Renske), Khan, S. (Sofia), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Konstantopoulou, I. (Irene), Koppert, L. B. (Linetta B.), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Laenkholm, A.-V. (Anne-Vibeke), Lambrechts, D. (Diether), Larsson, S. C. (Susanna C.), Laurent-Puig, P. (Pierre), Lazaro, C. (Conxi), Lazarova, E. (Emilija), Lejbkowicz, F. (Flavio), Leslie, G. (Goska), Lesueur, F. (Fabienne), Lindblom, A. (Annika), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loud, J. T. (Jennifer T.), Lubinski, J. (Jan), Lukomska, A. (Alicja), Maclnnis, R. J. (Robert J.), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Matricardi, L. (Laura), McGuffog, L. (Lesley), McLean, C. (Catriona), Mebirouk, N. (Noura), Meindl, A. (Alfons), Menon, U. (Usha), Miller, A. (Austin), Mingazheva, E. (Elvira), Montagna, M. (Marco), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Muranen, T. A. (Taru A.), Nathanson, K. L. (Katherine L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Newman, W. G. (William G.), Nielsens, F. C. (Finn C.), Nikitina-Zake, L. (Liene), Nodora, J. (Jesse), Offit, K. (Kenneth), Olah, E. (Edith), Olopade, O. I. (Olufunmilayo, I), Olsson, H. (Hakan), Orr, N. (Nick), Papi, L. (Laura), Papp, J. (Janos), Park-Simon, T.-W. (Tjoung-Won), Parsons, M. T. (Michael T.), Peissel, B. (Bernard), Peixoto, A. (Ana), Peshkin, B. (Beth), Peterlongo, P. (Paolo), Peto, J. (Julian), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Plaseska-Karanfilska, D. (Dijana), Prajzendanc, K. (Karolina), Prentice, R. (Ross), Prokofyeva, D. (Darya), Rack, B. (Brigitte), Radice, P. (Paolo), Ramus, S. J. (Susan J.), Rantala, J. (Johanna), Rashid, M. U. (Muhammad U.), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Risch, H. A. (Harvey A.), Romero, A. (Atocha), Rookus, M. A. (Matti A.), Ruebner, M. (Matthias), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sampson, S. (Sarah), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Scheuner, M. T. (Maren T.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schoettker, B. (Ben), Schuermann, P. (Peter), Senter, L. (Leigha), Sharma, P. (Priyanka), Sherman, M. E. (Mark E.), Shu, X.-O. (Xiao-Ou), Singer, C. F. (Christian F.), Smichkoska, S. (Snezhana), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Stoppa-Lyonnet, D. (Dominique), Swerdlow, A. J. (Anthony J.), Szabo, C. I. (Csilla, I), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teixeira, M. R. (Manuel R.), Terry, M. (MaryBeth), Thomassen, M. (Mads), Thull, D. L. (Darcy L.), Tischkowitz, M. (Marc), Toland, A. E. (Amanda E.), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Torres, D. (Diana), Troester, M. A. (Melissa A.), Truong, T. (Therese), Tung, N. (Nadine), Untch, M. (Michael), Vachon, C. M. (Celine M.), van den Ouweland, A. M. (Ans M. W.), van der Kolk, L. E. (Lizet E.), van Veen, E. M. (Elke M.), vanRensburg, E. J. (Elizabeth J.), Vega, A. (Ana), Wappenschmidt, B. (Barbara), Weinberg, C. R. (Clarice R.), Weitzel, J. N. (Jeffrey N.), Wildiers, H. (Hans), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zorn, K. K. (Kristin K.), Milne, R. L. (Roger L.), Kraft, P. (Peter), Simard, J. (Jacques), Pharoah, P. D. (Paul D. P.), Michailidou, K. (Kyriaki), Antoniou, A. C. (Antonis C.), Schmidt, M. K. (Marjanka K.), Chenevix-Trench, G. (Georgia), Easton, D. F. (Douglas F.), Chatterjee, N. (Nilanjan), and Garcia-Closas, M. (Montserrat)
Abstract: Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P
Published: 2020

6. Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

Author: Liu, J. (Jingjing), Prager-van der Smissen, W.J.C. (Wendy), Collée, J.M. (J Margriet), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Ahearn, T.U. (Thomas U.), Aittomäki, K. (Kristiina), Ambrosone, C.B. (Christine), Andrulis, I.L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia N.), Arndt, V. (Volker), Arnold, N. (Norbert), Aronson, K.J. (Kristan J.), Augustinsson, A. (Annelie), Auvinen, P. (Päivi), Becher, H. (Heiko), Beckmann, M.W. (Matthias), Behrens, T.W. (Timothy), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Bogdanova, N.V. (Natalia V.), Bogdanova-Markov, N. (Nadja), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Briceno, I. (Ignacio), Brucker, S.Y. (Sara Y.), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, Q. (Qiuyin), Cai, H. (Hui), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J.E. (Jose ), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Choi, J.-Y. (J.), Christiaens, M. (Melissa), Clarke, C. (Christine), Couch, F.J. (Fergus), Czene, K. (Kamila), Daly, M.B. (Mary), Devilee, P. (Peter), Santos Silva, I. (Isabel) dos, Dwek, M. (Miriam), Eccles, D.M. (Diana M.), Eliassen, A.H. (A Heather), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flyger, H. (Henrik), Fritschi, L. (Lin), Gago-Dominguez, M. (Manuela), Gapstur, S.M. (Susan M.), García-Closas, M. (Montserrat), García-Sáenz, J.A. (José A), Gaudet, M.M. (Mia M.), Giles, G.G. (Graham G.), Goldberg, M.S. (Mark), Radice, P. (Paolo), Guénel, P. (Pascal), Haiman, C.A. (Christopher), Håkansson, N. (Niclas), Hall, P. (Per), Harrington, P.A. (Patricia A.), Hart, S.N. (Steven N.), Hartman, J.M. (Joost), Hillemanns, P. (Peter), Hopper, J.L. (John), Hou, M.-F. (Ming-Feng), Hunter, D.J. (David), Huo, D. (Dezheng), Ito, H. (Hidemi), Iwasaki, M. (Motoki), Jakimovska, M. (Milena), Jakubowska, A. (Anna), John, E.M. (Esther), Kaaks, R. (Rudolf), Kang, D. (Daehee), Keeman, R. (Renske), Khusnutdinova, E.K. (Elza), Kim, S.-W. (Sung-Won), Kraft, P. (Peter), Kristensen, V. (Vessela), Kurian, A.W. (Allison W.), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Luben, R.N. (Robert N.), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Mariapun, S. (Shivaani), Matsuo, K. (Keitaro), Maurer, T. (Tabea), Mavroudis, D. (Dimitris), Meindl, A. (Alfons), Menon, U. (Usha), Milne, R.L. (Roger), Muir, K. (Kenneth), Mulligan, A.-M. (Anna-Marie), Floris, O.A.M., Nevanlinna, H. (Heli), Offit, K. (Kenneth), Olopade, O.I. (Olofunmilayo), Olson, J.E. (Janet), Olsson, H. (Håkan), Orr, N. (Nick), Park, S.K. (Sue K.), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Presneau, N. (Nadege), Rack, B. (Brigitte), Rau-Murthy, R. (Rohini), Rennert, G. (Gad), Rennert, H.S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Scott, C.G. (Christopher G.), Shah, M. (Mitul), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Sohn, C. (Christof), Southey, M.C. (Melissa), Spinelli, J.J. (John J.), Tamimi, R. (Rulla), Tapper, W.J. (William J.), Teo, S.H. (Soo H.), Terry, M.B. (Mary Beth), Torres, D. (Diana), Truong, T. (Thérèse), Untch, M. (Michael), Vachon, C. (Celine), van Asperen, C.J. (Christi J.), Wolk, K. (Kerstin), Yamaji, T. (Taiki), Zheng, W. (Wei), Ziogas, A. (Argyrios), Ziv, E. (Elad), Torres-Mejía, G. (Gabriela), Dörk, T. (Thilo), Swerdlow, A.J. (Anthony ), Hamann, U. (Ute), Schmidt, M.K. (Marjanka), Dunning, A.M. (Alison M.), Pharoah, P.D.P. (Paul), Adamo, P. (Pio) d', Hooning, M.J. (Maartje J.), Martens, J.W.M. (John), Hollestelle, A. (Antoinette), Liu, J. (Jingjing), Prager-van der Smissen, W.J.C. (Wendy), Collée, J.M. (J Margriet), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Ahearn, T.U. (Thomas U.), Aittomäki, K. (Kristiina), Ambrosone, C.B. (Christine), Andrulis, I.L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia N.), Arndt, V. (Volker), Arnold, N. (Norbert), Aronson, K.J. (Kristan J.), Augustinsson, A. (Annelie), Auvinen, P. (Päivi), Becher, H. (Heiko), Beckmann, M.W. (Matthias), Behrens, T.W. (Timothy), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Bogdanova, N.V. (Natalia V.), Bogdanova-Markov, N. (Nadja), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Briceno, I. (Ignacio), Brucker, S.Y. (Sara Y.), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, Q. (Qiuyin), Cai, H. (Hui), Campa, D. (Daniele), Canzian, F. (Federico), Castelao, J.E. (Jose ), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Choi, J.-Y. (J.), Christiaens, M. (Melissa), Clarke, C. (Christine), Couch, F.J. (Fergus), Czene, K. (Kamila), Daly, M.B. (Mary), Devilee, P. (Peter), Santos Silva, I. (Isabel) dos, Dwek, M. (Miriam), Eccles, D.M. (Diana M.), Eliassen, A.H. (A Heather), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flyger, H. (Henrik), Fritschi, L. (Lin), Gago-Dominguez, M. (Manuela), Gapstur, S.M. (Susan M.), García-Closas, M. (Montserrat), García-Sáenz, J.A. (José A), Gaudet, M.M. (Mia M.), Giles, G.G. (Graham G.), Goldberg, M.S. (Mark), Radice, P. (Paolo), Guénel, P. (Pascal), Haiman, C.A. (Christopher), Håkansson, N. (Niclas), Hall, P. (Per), Harrington, P.A. (Patricia A.), Hart, S.N. (Steven N.), Hartman, J.M. (Joost), Hillemanns, P. (Peter), Hopper, J.L. (John), Hou, M.-F. (Ming-Feng), Hunter, D.J. (David), Huo, D. (Dezheng), Ito, H. (Hidemi), Iwasaki, M. (Motoki), Jakimovska, M. (Milena), Jakubowska, A. (Anna), John, E.M. (Esther), Kaaks, R. (Rudolf), Kang, D. (Daehee), Keeman, R. (Renske), Khusnutdinova, E.K. (Elza), Kim, S.-W. (Sung-Won), Kraft, P. (Peter), Kristensen, V. (Vessela), Kurian, A.W. (Allison W.), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Luben, R.N. (Robert N.), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Mariapun, S. (Shivaani), Matsuo, K. (Keitaro), Maurer, T. (Tabea), Mavroudis, D. (Dimitris), Meindl, A. (Alfons), Menon, U. (Usha), Milne, R.L. (Roger), Muir, K. (Kenneth), Mulligan, A.-M. (Anna-Marie), Floris, O.A.M., Nevanlinna, H. (Heli), Offit, K. (Kenneth), Olopade, O.I. (Olofunmilayo), Olson, J.E. (Janet), Olsson, H. (Håkan), Orr, N. (Nick), Park, S.K. (Sue K.), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Presneau, N. (Nadege), Rack, B. (Brigitte), Rau-Murthy, R. (Rohini), Rennert, G. (Gad), Rennert, H.S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Scott, C.G. (Christopher G.), Shah, M. (Mitul), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Simard, J. (Jacques), Sohn, C. (Christof), Southey, M.C. (Melissa), Spinelli, J.J. (John J.), Tamimi, R. (Rulla), Tapper, W.J. (William J.), Teo, S.H. (Soo H.), Terry, M.B. (Mary Beth), Torres, D. (Diana), Truong, T. (Thérèse), Untch, M. (Michael), Vachon, C. (Celine), van Asperen, C.J. (Christi J.), Wolk, K. (Kerstin), Yamaji, T. (Taiki), Zheng, W. (Wei), Ziogas, A. (Argyrios), Ziv, E. (Elad), Torres-Mejía, G. (Gabriela), Dörk, T. (Thilo), Swerdlow, A.J. (Anthony ), Hamann, U. (Ute), Schmidt, M.K. (Marjanka), Dunning, A.M. (Alison M.), Pharoah, P.D.P. (Paul), Adamo, P. (Pio) d', Hooning, M.J. (Maartje J.), Martens, J.W.M. (John), and Hollestelle, A. (Antoinette)
Abstract: In breast cancer, high levels of homeobox protein Hox-B13 (HOXB13) have been associated with disease progression of ER-positive breast cancer patients and resistance to tamoxifen treatment. Since HOXB13 p.G84E is a prostate cancer risk allele, we evaluated the association between HOXB13 germline mutations and breast cancer risk in a previous study consisting of 3,270 familial non-BRCA1/2 breast cancer cases and 2,327 controls from the Netherlands. Although both recurrent HOXB13 mutations p.G84E and p.R217C were not associated with breast cancer risk, the risk estimation for p.R217C was not very precise. To provide more conclusive evidence regarding the role of HOXB13 in breast cancer susceptibility, we here evaluated the association between HOXB13 mutations and increased breast cancer risk within 81 studies of the international Breast Cancer Association Consortium containing 68,521 invasive breast cancer patients and 54,865 controls. Both HOXB13 p.G84E and p.R217C did not associate with the development of breast cancer in European women, neither in the overall analysis (OR = 1.035, 95% CI = 0.859-1.246, P = 0.718 and OR = 0.798, 95% CI = 0.482-1.322, P = 0.381 respectively), nor in specific high-risk subgroups or breast cancer subtypes. Thus, although involved in breast cancer progression, HOXB13 is not a material breast cancer susceptibility gene.
Published: 2020
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7. A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Author: Escala-Garcia, M. (Maria), Abraham, J. (Jean), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Ashworth, A. (Alan), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Beckmann, M. W. (Matthias W.), Beesley, J. (Jonathan), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Blot, W. (William), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chin, S.-F. (Suet-Feung), Clarke, C. L. (Christine L.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dunn, J. A. (Janet A.), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Earl, H. M. (Helena M.), Eccles, D. M. (Diana M.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), George, A. (Angela), Giles, G. G. (Graham G.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Grip, M. (Mervi), Guenel, P. (Pascal), Guo, Q. (Qi), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Harrington, P. A. (Patricia A.), Hiller, L. (Louise), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, C.-S. (Chiun-Sheng), Huang, G. (Guanmengqian), Hunter, D. J. (David J.), Jakubowska, A. (Anna), John, E. M. (Esther M.), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Keeman, R. (Renske), Kitahara, C. M. (Cari M.), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lejbkowicz, F. (Flavio), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Maurer, T. (Tabea), Mavroudis, D. (Dimitrios), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Olshan, A. F. (Andrew F.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Peterlongo, P. (Paolo), Petridis, C. (Christos), Prentice, R. L. (Ross L.), Presneau, N. (Nadege), Punie, K. (Kevin), Ramachandran, D. (Dhanya), Rennert, G. (Gad), Romero, A. (Atocha), Sachchithananthan, M. (Mythily), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schwentner, L. (Lukas), Scott, C. (Christopher), Simard, J. (Jacques), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Thorne, H. (Heather), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Turnbull, C. (Clare), Vachon, C. M. (Celine M.), van der Kolk, L. E. (Lizet E.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Ziogas, A. (Argyrios), Pharoah, P. D. (Paul D. P.), Hall, P. (Per), Wessels, L. F. (Lodewyk F. A.), Chenevix-Trench, G. (Georgia), Bader, G. D. (Gary D.), Doerk, T. (Thilo), Easton, D. F. (Douglas F.), Canisius, S. (Sander), Schmidt, M. K. (Marjanka K.), Escala-Garcia, M. (Maria), Abraham, J. (Jean), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Ashworth, A. (Alan), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Beckmann, M. W. (Matthias W.), Beesley, J. (Jonathan), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Blot, W. (William), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chin, S.-F. (Suet-Feung), Clarke, C. L. (Christine L.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Dennis, J. (Joe), Devilee, P. (Peter), Dunn, J. A. (Janet A.), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Earl, H. M. (Helena M.), Eccles, D. M. (Diana M.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flyger, H. (Henrik), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), George, A. (Angela), Giles, G. G. (Graham G.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Grip, M. (Mervi), Guenel, P. (Pascal), Guo, Q. (Qi), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Harrington, P. A. (Patricia A.), Hiller, L. (Louise), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, C.-S. (Chiun-Sheng), Huang, G. (Guanmengqian), Hunter, D. J. (David J.), Jakubowska, A. (Anna), John, E. M. (Esther M.), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Keeman, R. (Renske), Kitahara, C. M. (Cari M.), Koppert, L. B. (Linetta B.), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lejbkowicz, F. (Flavio), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Maurer, T. (Tabea), Mavroudis, D. (Dimitrios), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newman, W. G. (William G.), Olshan, A. F. (Andrew F.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Peterlongo, P. (Paolo), Petridis, C. (Christos), Prentice, R. L. (Ross L.), Presneau, N. (Nadege), Punie, K. (Kevin), Ramachandran, D. (Dhanya), Rennert, G. (Gad), Romero, A. (Atocha), Sachchithananthan, M. (Mythily), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmutzler, R. K. (Rita K.), Schwentner, L. (Lukas), Scott, C. (Christopher), Simard, J. (Jacques), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Thorne, H. (Heather), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Troester, M. A. (Melissa A.), Truong, T. (Therese), Turnbull, C. (Clare), Vachon, C. M. (Celine M.), van der Kolk, L. E. (Lizet E.), Wang, Q. (Qin), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Ziogas, A. (Argyrios), Pharoah, P. D. (Paul D. P.), Hall, P. (Per), Wessels, L. F. (Lodewyk F. A.), Chenevix-Trench, G. (Georgia), Bader, G. D. (Gary D.), Doerk, T. (Thilo), Easton, D. F. (Douglas F.), Canisius, S. (Sander), and Schmidt, M. K. (Marjanka K.)
Abstract: Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of germline variants in breast cancer prognosis. This network-based analysis studies ~7.3 million variants in 84,457 breast cancer patients in relation to breast cancer survival and confirms the results on 12,381 independent patients. Aggregating the prognostic effects of genetic variants across multiple genes, we identify four gene modules associated with survival in estrogen receptor (ER)-negative and one in ER-positive disease. The modules show biological enrichment for cancer-related processes such as G-alpha signaling, circadian clock, angiogenesis, and Rho-GTPases in apoptosis.
Published: 2020

8. Genome-wide association study of germline variants and breast cancer-specific mortality

Author: Escala-Garcia, M. (Maria), Guo, Q. (Qi), Doerk, T. (Thilo), Canisius, S. (Sander), Keeman, R. (Renske), Dennis, J. (Joe), Beesley, J. (Jonathan), Lecarpentier, J. (Julie), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Abraham, J. (Jean), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Auer, P. L. (Paul L.), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Blomqvist, C. (Carl), Boeckx, B. (Bram), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brentnall, A. (Adam), Brinton, L. (Louise), Broberg, P. (Per), Brock, I. W. (Ian W.), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Caldes, T. (Trinidad), Campa, D. (Daniele), Canzian, F. (Federico), Carracedo, A. (Angel), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Cheng, T. D. (Ting-Yuan David), Chin, S.-F. (Suet-Feung), Clarke, C. L. (Christine L.), Cordina-Duverger, E. (Emilie), Couch, F. J. (Fergus J.), Cox, D. G. (David G.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dunn, J. A. (Janet A.), Dunning, A. M. (Alison M.), Durcan, L. (Lorraine), Dwek, M. (Miriam), Earl, H. M. (Helena M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Galle, E. (Eva), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), George, A. (Angela), Georgoulias, V. (Vassilios), Giles, G. G. (Graham G.), Glendon, G. (Gord), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S. (Susan), Harkness, E. F. (Elaine F.), Harrington, P. A. (Patricia A.), Hart, S. N. (Steven N.), Hartikainen, J. M. (Jaana M.), Hein, A. (Alexander), Hillemanns, P. (Peter), Hiller, L. (Louise), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jukkola-Vuorinen, A. (Arja), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kaczmarek, K. (Katarzyna), Kerin, M. J. (Michael J.), Khan, S. (Sofia), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Kitahara, C. M. (Cari M.), Knight, J. A. (Julia A.), Ko, Y.-D. (Yon-Dschun), Koppert, L. B. (Linetta B.), Kosma, V.-M. (Veli-Matti), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kuehl, T. (Tabea), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Li, L. (Lian), Lindblom, A. (Annika), Lindstrom, S. (Sara), Linet, M. (Martha), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Lubinski, J. (Jan), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maierthaler, M. (Melanie), Maishman, T. (Tom), Makalic, E. (Enes), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), McLean, C. (Catriona), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, N. (Nicola), Milne, R. L. (Roger L.), Moreno, F. (Fernando), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Nassir, R. (Rami), Neuhausen, S. L. (Susan L.), Newman, W. T. (William T.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Norman, A. (Aaron), Olsson, H. (Hakan), Orr, N. (Nick), Pankratz, V. S. (V. Shane), Park-Simon, T.-W. (Tjoung-Won), Perez, J. I. (Jose I. A.), Perez-Barrios, C. (Clara), Peterlongo, P. (Paolo), Petridis, C. (Christos), Pinchev, M. (Mila), Prajzendanc, K. (Karoliona), Prentice, R. (Ross), Presneau, N. (Nadege), Prokofieva, D. (Darya), Pylkas, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Ramachandran, D. (Dhanya), Rennert, G. (Gadi), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Roylance, R. (Rebecca), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmidt, D. F. (Daniel F.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schumacher, F. (Fredrick), Schwentner, L. (Lukas), Scott, R. J. (Rodney J.), Scott, C. (Christopher), Seynaeve, C. (Caroline), Shah, M. (Mitul), Simard, J. (Jacques), Smeets, A. (Ann), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Talhouk, A. (Aline), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teixeira, M. R. (Manuel R.), Tengstrom, M. (Maria), Terry, M. B. (Mary Beth), Thoene, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Therese), Turman, C. (Constance), Turnbull, C. (Clare), Ulmer, H.-U. (Hans-Ulrich), Untch, M. (Michael), Vachon, C. (Celine), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van Veen, E. M. (Elke M.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Willett, W. (Walter), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zhang, Y. (Yan), Easton, D. F. (Douglas F.), Fasching, P. A. (Peter A.), Nevanlinna, H. (Heli), Eccles, D. M. (Diana M.), Pharoah, P. D. (Paul D. P.), and Schmidt, M. K. (Marjanka K.)
Abstract: Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Methods: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). Results: We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10−8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10−7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84–0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10−7, HR = 1.27, 95% CI = 1.16–1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. Conclusions: We uncovered germline variants on chromosome 7 at BFDP
Published: 2019

9. Erratum: Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature communications (2019) 10 1 (431))

Author: Jiang, X. (Xia), Finucane, H.K. (Hilary K.), Schumacher, F.R. (Fredrick R), Schmit, S.L. (Stephanie L.), Tyrer, J.P. (Jonathan P.), Han, Y. (Younghun), Michailidou, K. (Kyriaki), Lesseur, C. (Corina), Kuchenbaecker, K.B. (Karoline), Dennis, J. (Joe), Conti, G. (Giario), Casey, G. (Graham), Gaudet, M.M. (Mia M.), Huyghe, J.R. (Jeroen R.), Albanes, D. (Demetrius), Aldrich, M.C. (Melinda), Andrew, A.S. (Angeline S.), Andrulis, I.L. (Irene L.), Anton-Culver, H. (Hoda), Antoniou, A.C. (Antonis C.), Antonenkova, N.N. (Natalia N.), Arnold, S.M. (Susanne M.), Aronson, K.J. (Kristan J.), Arun, B.K. (Banu), Bandera, E.V. (Elisa), Barkardottir, R.B. (Rosa B.), Barnes, D. (Daniel), Batra, J. (Jyotsna), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Benlloch, S. (Sara), Berchuck, A. (Andrew), Berndt, S.I. (Sonja), Bickeböller, H. (Heike), Bien, S.A. (Stephanie A.), Blomqvist, C. (Carl), Boccia, S. (Stefania), Bogdanova, N.V. (Natalia V.), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brenton, J.D. (James D.), Brook, R.H., Brunet, J. (Joan), Brunnström, H. (Hans), Buchanan, D.D. (Daniel D.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Cadoni, G. (Gabriella), Caldes, T. (Trinidad), Caligo, M.A. (Maria A.), Campbell, I. (Ian), Campbell, P.T. (Peter T.), Cancel-Tassin, G. (Géraldine), Cannon-Albright, L.A. (Lisa), Campa, D. (Daniele), Caporaso, N.E. (Neil), Carvalho, A.L. (André L), Chan, A.T. (Andrew T.), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chen, C. (Chu), Christiani, D.C. (David C.), Claes, K.B.M. (Kathleen B M), Claessens, F. (Frank), Clements, J. (Judith), Collée, J.M. (J Margriet), Correa, M.C. (Marcia Cruz), Couch, F.J. (Fergus), Cox, A. (Angela), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M.B. (Mary), DeFazio, A. (Anna), Devilee, P. (Peter), Diez, O. (Orland), Gago-Dominguez, M. (Manuela), Donovan, J.L. (Jenny L.), Dörk, T. (Thilo), Duell, E.J. (Eric), Dunning, A.M. (Alison M.), Dwek, M. (Miriam), Eccles, D. (Diana), Edlund, C.K. (Christopher), Edwards, D.R.V. (Digna R Velez), Ellberg, C. (Carolina), Evans, D.G. (D Gareth), Fasching, P.A. (Peter), Ferris, R.L. (Robert L.), Liloglou, T. (Triantafillos), Figueiredo, J.C. (Jane C.), Fletcher, O. (Olivia), Fortner, R.T. (Renée T), Fostira, F. (Florentia), Franceschi, S. (Silvia), Friedman, E. (Eitan), Gallinger, S. (Steve), Ganz, P.A. (Patricia), Garber, J. (Judy), García-Sáenz, J.A. (José A), Gayther, S.A. (Simon), Giles, G.G. (Graham G.), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D.E. (David E.), Goode, E.L. (Ellen), Goodman, M.T. (Marc), Goodman, G. (Gary), Grankvist, K. (Kjell), Greene, M.H. (Mark H.), Grönberg, H. (Henrik), Gronwald, J. (Jacek), Guénel, P. (Pascal), Håkansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hamdy, F. (Freddie), Hamilton, R.J. (Robert J.), Hampe, J. (Jochen), Haugen, A. (Aage), Heitz, F. (Florian), Herrero, R. (Rolando), Hillemanns, P. (Peter), Hoffmeister, M. (Michael), Høgdall, E. (Estrid), Hong, Y.-C. (Yun-Chul), Hopper, J.L. (John), Houlston, R. (Richard), Hulick, P.J. (Peter J.), Hunter, D.J. (David), Huntsman, D.G. (David G.), Idos, G. (Gregory), Imyanitov, E.N. (Evgeny), Ingles, S.A. (Sue), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, M. (Margaret), Jenkins, M.A. (Mark A.), Johansson, M. (Mattias), Johansson, M. (Mikael), John, E.M. (Esther), Joshi, A.D. (Amit D.), Kaneva, R. (Radka), Karlan, B.Y. (Beth), Kelemen, L.E. (Linda E.), Kühl, T. (Tabea), Khaw, K.-T. (Kay-Tee), Khusnutdinova, E.K. (Elza), Kibel, A. (Adam), Kiemeney, L.A. (Lambertus A.), Kim, J. (Jongoh), Kjaer, M. (Michael), Knight, J.A. (Julia), Kogevinas, M. (Manolis), Kote-Jarai, Z., Koutros, S. (Stella), Kristensen, V. (Vessela), Kupryjanczyk, J. (Jolanta), Lacko, M. (Martin), Lam, S. (Stephan), Lambrechts, D. (Diether), Landi, M.T. (Maria Teresa), Lazarus, P. (Philip), Le, N.D. (Nhu D.), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lenz, H.-J. (Heinz-Josef), Leslie, G. (Goska), Lessel, D. (Davor), Lester, J. (Jenny), Levine, D.A. (Douglas), Li, L. (Li), Li, C.I. (Christopher I.), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Liu, G. (Geoffrey), Loupakis, F. (Fotios), Lubinski, J. (Jan), Maehle, L., Maier, C. (Christiane), Mannermaa, A. (Arto), Le Marchand, L. (Loic), Margolin, S. (Sara), May, T. (Taymaa), McGuffog, L. (Lesley), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, A. (Austin), Milne, R.L. (Roger), MacInnis, R.J. (Robert J.), Modugno, F. (Francesmary), Montagna, M. (Marco), Moreno, V. (Víctor), Moysich, K.B. (Kirsten), Mucci, L. (Lorelei), Muir, K. (Kenneth), Mulligan, A.-M. (Anna-Marie), Nathanson, K.L. (Katherine), Neal, D. (David), Ness, A.R. (Andrew R.), Neuhausen, S.L. (Susan L.), Nevanlinna, H. (Heli), Newcomb, P. (Polly), Newcomb, L.F. (Lisa F.), Nielsen, F. (Finn), Nikitina-Zake, L. (Liene), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Offit, K. (Kenneth), Olah, E. (Edith), Olama, A.A.A. (Ali Amin Al), Olopade, O.I. (Olofunmilayo), Olshan, A.F. (Andrew F.), Olsson, H. (Håkan), Osorio, A. (Ana), Pandha, H. (Hardev), Park, J.Y. (Jong Y.), Pashayan, N. (Nora), Parsons, M. (Marilyn), Pejovic, T. (Tanja), Penney, K.L. (Kathryn L.), Peters, W.H.M. (Wilbert), Phelan, C. (Catherine), Phipps, A.I. (Amanda I.), Plaseska-Karanfilska, D. (Dijana), Pring, M. (Miranda), Prokofyeva, D. (Darya), Radice, P. (Paolo), Stefansson, K. (Kari), Ramus, S.J. (Susan), Raskin, L. (Leon), Rennert, G. (Gad), Rennert, H.S. (Hedy S.), Rensburg, E.J. (Elizabeth) van, Riggan, M.J. (Marjorie J.), Risch, H.A. (Harvey A.), Risch, A. (Angela), Roobol, M.J. (Monique J.), Rosenstein, B.S. (Barry S.), Rossing, M.A. (Mary Anne), De Ruyck, K. (Kim), Saloustros, E. (Emmanouil), Sandler, D.P. (Dale P.), Sawyer, E.J. (Elinor J.), Schabath, M.B. (Matthew), Schleutker, J. (Johanna), Schmidt, M.K. (Marjanka), Setiawan, V.W. (V Wendy), Shen, H. (Hongbing), Siegel, E.M. (Erin M.), Sieh, W. (Weiva), Singer, C.F. (Christian), Slattery, M.L. (Martha L.), Sorensen, K.D. (Karina Dalsgaard), Southey, M.C. (Melissa), Spurdle, A.B. (Amanda), Stanford, J.L. (Janet L.), Stevens, V.L. (Victoria L.), Stintzing, S. (Sebastian), Stone, J. (Jennifer), Sundfeldt, K. (Karin), Sutphen, R. (Rebecca), Swerdlow, A.J. (Anthony ), Tajara, E.H. (Eloiza H.), Tangen, C.M. (Catherine M.), Tardón, A. (Adonina), Taylor, J.A. (Jack A.), Teare, M.D. (M Dawn), Teixeira, P.J., Terry, M.B. (Mary Beth), Terry, K.L. (Kathryn L.), Thibodeau, S.N. (Stephen), Thomassen, M. (Mads), Bjørge, L. (Line), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Torres, D. (Diana), Townsend, P.A. (Paul A.), Travis, S.P.L. (Simon), Tung, N. (Nadine), Tworoger, S. (Shelley), Ulrich, C. (Cornelia), Usmani, N. (Nawaid), Vachon, C. (Celine), Van Nieuwenhuysen, E. (Els), Vega, A. (Ana), Aguado-Barrera, M.E. (Miguel Elías), Wang, Q. (Qin), Webb, P. (Penny), Weinberg, C.R. (Clarice R.), Weinstein, S. (Stephanie), Weissler, M.C. (Mark C.), Weitzel, J.N. (Jeffrey), West, C.M.L. (Catharine M L), White, E. (Emily), Whittemore, A.S. (Alice), Wichmann, H.-E. (H-Erich), Wiklund, F. (Fredrik), Winqvist, R. (Robert), Wolk, K. (Kerstin), Woll, P.J. (Penella J), Woods, M.O. (Michael), Wu, A.H. (Anna H.), Wu, X. (Xifeng), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zienolddiny, S. (Shanbeh), Ziogas, A. (Argyrios), Zorn, K.K. (Kristin K.), Lane, J.M. (Jacqueline M.), Saxena, R. (Richa), Thomas, D.C. (Duncan), Hung, R.J. (Rayjean J.), Diergaarde, B. (Brenda), McKay, J. (James), Peters, U. (Ulrike), Hsu, L. (Li), García-Closas, M. (Montserrat), Eeles, R.A. (Rosalind A.), Chenevix-Trench, G. (Georgia), Brennan, P.J. (Paul J.), Haiman, C.A. (Christopher), Simard, J. (Jacques), Easton, D.F. (Douglas), Gruber, S.B. (Stephen), Pharoah, P.D.P. (Paul), Price, A.L. (Alkes L.), Pasaniuc, B. (Bogdan), Amos, C.I. (Christopher I.), Kraft, P. (Peter), Lindström, S. (Sara), Jiang, X. (Xia), Finucane, H.K. (Hilary K.), Schumacher, F.R. (Fredrick R), Schmit, S.L. (Stephanie L.), Tyrer, J.P. (Jonathan P.), Han, Y. (Younghun), Michailidou, K. (Kyriaki), Lesseur, C. (Corina), Kuchenbaecker, K.B. (Karoline), Dennis, J. (Joe), Conti, G. (Giario), Casey, G. (Graham), Gaudet, M.M. (Mia M.), Huyghe, J.R. (Jeroen R.), Albanes, D. (Demetrius), Aldrich, M.C. (Melinda), Andrew, A.S. (Angeline S.), Andrulis, I.L. (Irene L.), Anton-Culver, H. (Hoda), Antoniou, A.C. (Antonis C.), Antonenkova, N.N. (Natalia N.), Arnold, S.M. (Susanne M.), Aronson, K.J. (Kristan J.), Arun, B.K. (Banu), Bandera, E.V. (Elisa), Barkardottir, R.B. (Rosa B.), Barnes, D. (Daniel), Batra, J. (Jyotsna), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Benlloch, S. (Sara), Berchuck, A. (Andrew), Berndt, S.I. (Sonja), Bickeböller, H. (Heike), Bien, S.A. (Stephanie A.), Blomqvist, C. (Carl), Boccia, S. (Stefania), Bogdanova, N.V. (Natalia V.), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brenton, J.D. (James D.), Brook, R.H., Brunet, J. (Joan), Brunnström, H. (Hans), Buchanan, D.D. (Daniel D.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Cadoni, G. (Gabriella), Caldes, T. (Trinidad), Caligo, M.A. (Maria A.), Campbell, I. (Ian), Campbell, P.T. (Peter T.), Cancel-Tassin, G. (Géraldine), Cannon-Albright, L.A. (Lisa), Campa, D. (Daniele), Caporaso, N.E. (Neil), Carvalho, A.L. (André L), Chan, A.T. (Andrew T.), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chen, C. (Chu), Christiani, D.C. (David C.), Claes, K.B.M. (Kathleen B M), Claessens, F. (Frank), Clements, J. (Judith), Collée, J.M. (J Margriet), Correa, M.C. (Marcia Cruz), Couch, F.J. (Fergus), Cox, A. (Angela), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M.B. (Mary), DeFazio, A. (Anna), Devilee, P. (Peter), Diez, O. (Orland), Gago-Dominguez, M. (Manuela), Donovan, J.L. (Jenny L.), Dörk, T. (Thilo), Duell, E.J. (Eric), Dunning, A.M. (Alison M.), Dwek, M. (Miriam), Eccles, D. (Diana), Edlund, C.K. (Christopher), Edwards, D.R.V. (Digna R Velez), Ellberg, C. (Carolina), Evans, D.G. (D Gareth), Fasching, P.A. (Peter), Ferris, R.L. (Robert L.), Liloglou, T. (Triantafillos), Figueiredo, J.C. (Jane C.), Fletcher, O. (Olivia), Fortner, R.T. (Renée T), Fostira, F. (Florentia), Franceschi, S. (Silvia), Friedman, E. (Eitan), Gallinger, S. (Steve), Ganz, P.A. (Patricia), Garber, J. (Judy), García-Sáenz, J.A. (José A), Gayther, S.A. (Simon), Giles, G.G. (Graham G.), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D.E. (David E.), Goode, E.L. (Ellen), Goodman, M.T. (Marc), Goodman, G. (Gary), Grankvist, K. (Kjell), Greene, M.H. (Mark H.), Grönberg, H. (Henrik), Gronwald, J. (Jacek), Guénel, P. (Pascal), Håkansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hamdy, F. (Freddie), Hamilton, R.J. (Robert J.), Hampe, J. (Jochen), Haugen, A. (Aage), Heitz, F. (Florian), Herrero, R. (Rolando), Hillemanns, P. (Peter), Hoffmeister, M. (Michael), Høgdall, E. (Estrid), Hong, Y.-C. (Yun-Chul), Hopper, J.L. (John), Houlston, R. (Richard), Hulick, P.J. (Peter J.), Hunter, D.J. (David), Huntsman, D.G. (David G.), Idos, G. (Gregory), Imyanitov, E.N. (Evgeny), Ingles, S.A. (Sue), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, M. (Margaret), Jenkins, M.A. (Mark A.), Johansson, M. (Mattias), Johansson, M. (Mikael), John, E.M. (Esther), Joshi, A.D. (Amit D.), Kaneva, R. (Radka), Karlan, B.Y. (Beth), Kelemen, L.E. (Linda E.), Kühl, T. (Tabea), Khaw, K.-T. (Kay-Tee), Khusnutdinova, E.K. (Elza), Kibel, A. (Adam), Kiemeney, L.A. (Lambertus A.), Kim, J. (Jongoh), Kjaer, M. (Michael), Knight, J.A. (Julia), Kogevinas, M. (Manolis), Kote-Jarai, Z., Koutros, S. (Stella), Kristensen, V. (Vessela), Kupryjanczyk, J. (Jolanta), Lacko, M. (Martin), Lam, S. (Stephan), Lambrechts, D. (Diether), Landi, M.T. (Maria Teresa), Lazarus, P. (Philip), Le, N.D. (Nhu D.), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lenz, H.-J. (Heinz-Josef), Leslie, G. (Goska), Lessel, D. (Davor), Lester, J. (Jenny), Levine, D.A. (Douglas), Li, L. (Li), Li, C.I. (Christopher I.), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Liu, G. (Geoffrey), Loupakis, F. (Fotios), Lubinski, J. (Jan), Maehle, L., Maier, C. (Christiane), Mannermaa, A. (Arto), Le Marchand, L. (Loic), Margolin, S. (Sara), May, T. (Taymaa), McGuffog, L. (Lesley), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, A. (Austin), Milne, R.L. (Roger), MacInnis, R.J. (Robert J.), Modugno, F. (Francesmary), Montagna, M. (Marco), Moreno, V. (Víctor), Moysich, K.B. (Kirsten), Mucci, L. (Lorelei), Muir, K. (Kenneth), Mulligan, A.-M. (Anna-Marie), Nathanson, K.L. (Katherine), Neal, D. (David), Ness, A.R. (Andrew R.), Neuhausen, S.L. (Susan L.), Nevanlinna, H. (Heli), Newcomb, P. (Polly), Newcomb, L.F. (Lisa F.), Nielsen, F. (Finn), Nikitina-Zake, L. (Liene), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Offit, K. (Kenneth), Olah, E. (Edith), Olama, A.A.A. (Ali Amin Al), Olopade, O.I. (Olofunmilayo), Olshan, A.F. (Andrew F.), Olsson, H. (Håkan), Osorio, A. (Ana), Pandha, H. (Hardev), Park, J.Y. (Jong Y.), Pashayan, N. (Nora), Parsons, M. (Marilyn), Pejovic, T. (Tanja), Penney, K.L. (Kathryn L.), Peters, W.H.M. (Wilbert), Phelan, C. (Catherine), Phipps, A.I. (Amanda I.), Plaseska-Karanfilska, D. (Dijana), Pring, M. (Miranda), Prokofyeva, D. (Darya), Radice, P. (Paolo), Stefansson, K. (Kari), Ramus, S.J. (Susan), Raskin, L. (Leon), Rennert, G. (Gad), Rennert, H.S. (Hedy S.), Rensburg, E.J. (Elizabeth) van, Riggan, M.J. (Marjorie J.), Risch, H.A. (Harvey A.), Risch, A. (Angela), Roobol, M.J. (Monique J.), Rosenstein, B.S. (Barry S.), Rossing, M.A. (Mary Anne), De Ruyck, K. (Kim), Saloustros, E. (Emmanouil), Sandler, D.P. (Dale P.), Sawyer, E.J. (Elinor J.), Schabath, M.B. (Matthew), Schleutker, J. (Johanna), Schmidt, M.K. (Marjanka), Setiawan, V.W. (V Wendy), Shen, H. (Hongbing), Siegel, E.M. (Erin M.), Sieh, W. (Weiva), Singer, C.F. (Christian), Slattery, M.L. (Martha L.), Sorensen, K.D. (Karina Dalsgaard), Southey, M.C. (Melissa), Spurdle, A.B. (Amanda), Stanford, J.L. (Janet L.), Stevens, V.L. (Victoria L.), Stintzing, S. (Sebastian), Stone, J. (Jennifer), Sundfeldt, K. (Karin), Sutphen, R. (Rebecca), Swerdlow, A.J. (Anthony ), Tajara, E.H. (Eloiza H.), Tangen, C.M. (Catherine M.), Tardón, A. (Adonina), Taylor, J.A. (Jack A.), Teare, M.D. (M Dawn), Teixeira, P.J., Terry, M.B. (Mary Beth), Terry, K.L. (Kathryn L.), Thibodeau, S.N. (Stephen), Thomassen, M. (Mads), Bjørge, L. (Line), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Torres, D. (Diana), Townsend, P.A. (Paul A.), Travis, S.P.L. (Simon), Tung, N. (Nadine), Tworoger, S. (Shelley), Ulrich, C. (Cornelia), Usmani, N. (Nawaid), Vachon, C. (Celine), Van Nieuwenhuysen, E. (Els), Vega, A. (Ana), Aguado-Barrera, M.E. (Miguel Elías), Wang, Q. (Qin), Webb, P. (Penny), Weinberg, C.R. (Clarice R.), Weinstein, S. (Stephanie), Weissler, M.C. (Mark C.), Weitzel, J.N. (Jeffrey), West, C.M.L. (Catharine M L), White, E. (Emily), Whittemore, A.S. (Alice), Wichmann, H.-E. (H-Erich), Wiklund, F. (Fredrik), Winqvist, R. (Robert), Wolk, K. (Kerstin), Woll, P.J. (Penella J), Woods, M.O. (Michael), Wu, A.H. (Anna H.), Wu, X. (Xifeng), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zienolddiny, S. (Shanbeh), Ziogas, A. (Argyrios), Zorn, K.K. (Kristin K.), Lane, J.M. (Jacqueline M.), Saxena, R. (Richa), Thomas, D.C. (Duncan), Hung, R.J. (Rayjean J.), Diergaarde, B. (Brenda), McKay, J. (James), Peters, U. (Ulrike), Hsu, L. (Li), García-Closas, M. (Montserrat), Eeles, R.A. (Rosalind A.), Chenevix-Trench, G. (Georgia), Brennan, P.J. (Paul J.), Haiman, C.A. (Christopher), Simard, J. (Jacques), Easton, D.F. (Douglas), Gruber, S.B. (Stephen), Pharoah, P.D.P. (Paul), Price, A.L. (Alkes L.), Pasaniuc, B. (Bogdan), Amos, C.I. (Christopher I.), Kraft, P. (Peter), and Lindström, S. (Sara)
Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Published: 2019
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10. Shared heritability and functional enrichment across six solid cancers

Author: Jiang, X. (Xia), Finucane, H. K. (Hilary K.), Schumacher, F. R. (Fredrick R.), Schmit, S. L. (Stephanie L.), Tyrer, J. P. (Jonathan P.), Han, Y. (Younghun), Michailidou, K. (Kyriaki), Lesseur, C. (Corina), Kuchenbaecker, K. B. (Karoline B.), Dennis, J. (Joe), Conti, D. V. (David V.), Casey, G. (Graham), Gaudet, M. M. (Mia M.), Huyghe, J. R. (Jeroen R.), Albanes, D. (Demetrius), Aldrich, M. C. (Melinda C.), Andrew, A. S. (Angeline S.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antoniou, A. C. (Antonis C.), Antonenkova, N. N. (Natalia N.), Arnold, S. M. (Susanne M.), Aronson, K. J. (Kristan J.), Arun, B. K. (Banu K.), Bandera, E. V. (Elisa V.), Barkardottir, R. B. (Rosa B.), Barnes, D. R. (Daniel R.), Batra, J. (Jyotsna), Beckmann, M. W. (Matthias W.), Benitez, J. (Javier), Benlloch, S. (Sara), Berchuck, A. (Andrew), Berndt, S. I. (Sonja I.), Bickeboeller, H. (Heike), Bien, S. A. (Stephanie A.), Blomqvist, C. (Carl), Boccia, S. (Stefania), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brenton, J. D. (James D.), Brook, M. N. (Mark N.), Brunet, J. (Joan), Brunnstrom, H. (Hans), Buchanan, D. D. (Daniel D.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Cadoni, G. (Gabriella), Caldes, T. (Trinidad), Caligo, M. A. (Maria A.), Campbell, I. (Ian), Campbell, P. T. (Peter T.), Cancel-Tassin, G. (Geraldine), Cannon-Albright, L. (Lisa), Campa, D. (Daniele), Caporaso, N. (Neil), Carvalho, A. L. (Andre L.), Chan, A. T. (Andrew T.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chen, C. (Chu), Christiani, D. C. (David C.), Claes, K. B. (Kathleen B. M.), Claessens, F. (Frank), Clements, J. (Judith), Collee, J. M. (J. Margriet), Correa, M. C. (Marcia Cruz), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cunningham, J. M. (Julie M.), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M. B. (Mary B.), defazio, A. (Anna), Devilee, P. (Peter), Diez, O. (Orland), Gago-Dominguez, M. (Manuela), Donovan, J. L. (Jenny L.), Doerk, T. (Thilo), Duell, E. J. (Eric J.), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Edlund, C. K. (Christopher K.), Edwards, D. R. (Digna R. Velez), Ellberg, C. (Carolina), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Ferris, R. L. (Robert L.), Liloglou, T. (Triantafillos), Figueiredo, J. C. (Jane C.), Fletcher, O. (Olivia), Fortner, R. T. (Renee T.), Fostira, F. (Florentia), Franceschi, S. (Silvia), Friedman, E. (Eitan), Gallinger, S. J. (Steven J.), Ganz, P. A. (Patricia A.), Garber, J. (Judy), Garcia-Saenz, J. A. (Jose A.), Gayther, S. A. (Simon A.), Giles, G. G. (Graham G.), Godwin, A. K. (Andrew K.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Goode, E. L. (Ellen L.), Goodman, M. T. (Marc T.), Goodman, G. (Gary), Grankvist, K. (Kjell), Greene, M. H. (Mark H.), Gronberg, H. (Henrik), Gronwald, J. (Jacek), Guenel, P. (Pascal), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hamdy, F. C. (Freddie C.), Hamilton, R. J. (Robert J.), Hampe, J. (Jochen), Haugen, A. (Aage), Heitz, F. (Florian), Herrero, R. (Rolando), Hillemanns, P. (Peter), Hoffmeister, M. (Michael), Hogdall, E. (Estrid), Hong, Y.-C. (Yun-Chul), Hopper, J. L. (John L.), Houlston, R. (Richard), Hulick, P. J. (Peter J.), Hunter, D. J. (David J.), Huntsman, D. G. (David G.), Idos, G. (Gregory), Imyanitov, E. N. (Evgeny N.), Ingles, S. A. (Sue Ann), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, P. (Paul), Jenkins, M. A. (Mark A.), Johansson, M. (Mattias), Johansson, M. (Mikael), John, E. M. (Esther M.), Joshi, A. D. (Amit D.), Kaneva, R. (Radka), Karlan, B. Y. (Beth Y.), Kelemen, L. E. (Linda E.), Kuhl, T. (Tabea), Khaw, K.-T. (Kay-Tee), Khusnutdinova, E. (Elza), Kibel, A. S. (Adam S.), Kiemeney, L. A. (Lambertus A.), Kim, J. (Jeri), Kjaer, S. K. (Susanne K.), Knight, J. A. (Julia A.), Kogevinas, M. (Manolis), Kote-Jarai, Z. (Zsofia), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kupryjanczyk, J. (Jolanta), Lacko, M. (Martin), Lam, S. (Stephan), Lambrechts, D. (Diether), Landi, M. T. (Maria Teresa), Lazarus, P. (Philip), Le, N. D. (Nhu D.), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lenz, H.-J. (Heinz-Josef), Leslie, G. (Goska), Lessel, D. (Davor), Lester, J. (Jenny), Levine, D. A. (Douglas A.), Li, L. (Li), Li, C. I. (Christopher I.), Lindblom, A. (Annika), Lindor, N. M. (Noralane M.), Liu, G. (Geoffrey), Loupakis, F. (Fotios), Lubinski, J. (Jan), Maehle, L. (Lovise), Maier, C. (Christiane), Mannermaa, A. (Arto), Le Marchand, L. (Loic), Margolin, S. (Sara), May, T. (Taymaa), McGuffog, L. (Lesley), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, A. (Austin), Milne, R. L. (Roger L.), MacInnis, R. J. (Robert J.), Modugno, F. (Francesmary), Montagna, M. (Marco), Moreno, V. (Victor), Moysich, K. B. (Kirsten B.), Mucci, L. (Lorelei), Muir, K. (Kenneth), Mulligan, A. M. (Anna Marie), Nathanson, K. L. (Katherine L.), Neal, D. E. (David E.), Ness, A. R. (Andrew R.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newcomb, P. A. (Polly A.), Newcomb, L. F. (Lisa F.), Nielsen, F. C. (Finn Cilius), Nikitina-Zake, L. (Liene), Nordestgaard, B. G. (Borge G.), Nussbaum, R. L. (Robert L.), Offit, K. (Kenneth), Olah, E. (Edith), Al Olama, A. A. (Ali Amin), Olopade, O. I. (Olufunmilayo I.), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Osorio, A. (Ana), Pandha, H. (Hardev), Park, J. Y. (Jong Y.), Pashayan, N. (Nora), Parsons, M. T. (Michael T.), Pejovic, T. (Tanja), Penney, K. L. (Kathryn L.), Peters, W. H. (Wilbert H. M.), Phelan, C. M. (Catherine M.), Phipps, A. I. (Amanda I.), Plaseska-Karanfilska, D. (Dijana), Pring, M. (Miranda), Prokofyeva, D. (Darya), Radice, P. (Paolo), Stefansson, K. (Kari), Ramus, S. J. (Susan J.), Raskin, L. (Leon), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), van Rensburg, E. J. (Elizabeth J.), Riggan, M. J. (Marjorie J.), Risch, H. A. (Harvey A.), Risch, A. (Angela), Roobol, M. J. (Monique J.), Rosenstein, B. S. (Barry S.), Rossing, M. A. (Mary Anne), De Ruyck, K. (Kim), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schabath, M. B. (Matthew B.), Schleutker, J. (Johanna), Schmidt, M. K. (Marjanka K.), Setiawan, V. W. (V. Wendy), Shen, H. (Hongbing), Siegel, E. M. (Erin M.), Sieh, W. (Weiva), Singer, C. F. (Christian F.), Slattery, M. L. (Martha L.), Sorensen, K. D. (Karina Dalsgaard), Southey, M. C. (Melissa C.), Spurdle, A. B. (Amanda B.), Stanford, J. L. (Janet L.), Stevens, V. L. (Victoria L.), Stintzing, S. (Sebastian), Stone, J. (Jennifer), Sundfeldt, K. (Karin), Sutphen, R. (Rebecca), Swerdlow, A. J. (Anthony J.), Tajara, E. H. (Eloiza H.), Tangen, C. M. (Catherine M.), Tardon, A. (Adonina), Taylor, J. A. (Jack A.), Teare, M. D. (M. Dawn), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Terry, K. L. (Kathryn L.), Thibodeau, S. N. (Stephen N.), Thomassen, M. (Mads), Bjorge, L. (Line), Tischkowitz, M. (Marc), Toland, A. E. (Amanda E.), Torres, D. (Diana), Townsend, P. A. (Paul A.), Travis, R. C. (Ruth C.), Tung, N. (Nadine), Tworoger, S. S. (Shelley S.), Ulrich, C. M. (Cornelia M.), Usmani, N. (Nawaid), Vachon, C. M. (Celine M.), Van Nieuwenhuysen, E. (Els), Vega, A. (Ana), Aguado-Barrera, M. E. (Miguel Elias), Wang, Q. (Qin), Webb, P. M. (Penelope M.), Weinberg, C. R. (Clarice R.), Weinstein, S. (Stephanie), Weissler, M. C. (Mark C.), Weitzel, J. N. (Jeffrey N.), West, C. M. (Catharine M. L.), White, E. (Emily), Whittemore, A. S. (Alice S.), Wichmann, H.-E. (H-Erich), Wiklund, F. (Fredrik), Winqvist, R. (Robert), Wolk, A. (Alicja), Woll, P. (Penella), Woods, M. (Michael), Wu, A. H. (Anna H.), Wu, X. (Xifeng), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zienolddiny, S. (Shanbeh), Ziogas, A. (Argyrios), Zorn, K. K. (Kristin K.), Lane, J. M. (Jacqueline M.), Saxena, R. (Richa), Thomas, D. (Duncan), Hung, R. J. (Rayjean J.), Diergaarde, B. (Brenda), Mckay, J. (James), Peters, U. (Ulrike), Hsu, L. (Li), Garcia-Closas, M. (Montserrat), Eeles, R. A. (Rosalind A.), Chenevix-Trench, G. (Georgia), Brennan, P. J. (Paul J.), Haiman, C. A. (Christopher A.), Simard, J. (Jacques), Easton, D. F. (Douglas F.), Gruber, S. B. (Stephen B.), Pharoah, P. D. (Paul D. P.), Price, A. L. (Alkes L.), Pasaniuc, B. (Bogdan), Amos, C. I. (Christopher I.), Kraft, P. (Peter), Lindstrom, S. (Sara), Jiang, X. (Xia), Finucane, H. K. (Hilary K.), Schumacher, F. R. (Fredrick R.), Schmit, S. L. (Stephanie L.), Tyrer, J. P. (Jonathan P.), Han, Y. (Younghun), Michailidou, K. (Kyriaki), Lesseur, C. (Corina), Kuchenbaecker, K. B. (Karoline B.), Dennis, J. (Joe), Conti, D. V. (David V.), Casey, G. (Graham), Gaudet, M. M. (Mia M.), Huyghe, J. R. (Jeroen R.), Albanes, D. (Demetrius), Aldrich, M. C. (Melinda C.), Andrew, A. S. (Angeline S.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antoniou, A. C. (Antonis C.), Antonenkova, N. N. (Natalia N.), Arnold, S. M. (Susanne M.), Aronson, K. J. (Kristan J.), Arun, B. K. (Banu K.), Bandera, E. V. (Elisa V.), Barkardottir, R. B. (Rosa B.), Barnes, D. R. (Daniel R.), Batra, J. (Jyotsna), Beckmann, M. W. (Matthias W.), Benitez, J. (Javier), Benlloch, S. (Sara), Berchuck, A. (Andrew), Berndt, S. I. (Sonja I.), Bickeboeller, H. (Heike), Bien, S. A. (Stephanie A.), Blomqvist, C. (Carl), Boccia, S. (Stefania), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bolla, M. K. (Manjeet K.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brenton, J. D. (James D.), Brook, M. N. (Mark N.), Brunet, J. (Joan), Brunnstrom, H. (Hans), Buchanan, D. D. (Daniel D.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Cadoni, G. (Gabriella), Caldes, T. (Trinidad), Caligo, M. A. (Maria A.), Campbell, I. (Ian), Campbell, P. T. (Peter T.), Cancel-Tassin, G. (Geraldine), Cannon-Albright, L. (Lisa), Campa, D. (Daniele), Caporaso, N. (Neil), Carvalho, A. L. (Andre L.), Chan, A. T. (Andrew T.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chen, C. (Chu), Christiani, D. C. (David C.), Claes, K. B. (Kathleen B. M.), Claessens, F. (Frank), Clements, J. (Judith), Collee, J. M. (J. Margriet), Correa, M. C. (Marcia Cruz), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cunningham, J. M. (Julie M.), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M. B. (Mary B.), defazio, A. (Anna), Devilee, P. (Peter), Diez, O. (Orland), Gago-Dominguez, M. (Manuela), Donovan, J. L. (Jenny L.), Doerk, T. (Thilo), Duell, E. J. (Eric J.), Dunning, A. M. (Alison M.), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Edlund, C. K. (Christopher K.), Edwards, D. R. (Digna R. Velez), Ellberg, C. (Carolina), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Ferris, R. L. (Robert L.), Liloglou, T. (Triantafillos), Figueiredo, J. C. (Jane C.), Fletcher, O. (Olivia), Fortner, R. T. (Renee T.), Fostira, F. (Florentia), Franceschi, S. (Silvia), Friedman, E. (Eitan), Gallinger, S. J. (Steven J.), Ganz, P. A. (Patricia A.), Garber, J. (Judy), Garcia-Saenz, J. A. (Jose A.), Gayther, S. A. (Simon A.), Giles, G. G. (Graham G.), Godwin, A. K. (Andrew K.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Goode, E. L. (Ellen L.), Goodman, M. T. (Marc T.), Goodman, G. (Gary), Grankvist, K. (Kjell), Greene, M. H. (Mark H.), Gronberg, H. (Henrik), Gronwald, J. (Jacek), Guenel, P. (Pascal), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hamdy, F. C. (Freddie C.), Hamilton, R. J. (Robert J.), Hampe, J. (Jochen), Haugen, A. (Aage), Heitz, F. (Florian), Herrero, R. (Rolando), Hillemanns, P. (Peter), Hoffmeister, M. (Michael), Hogdall, E. (Estrid), Hong, Y.-C. (Yun-Chul), Hopper, J. L. (John L.), Houlston, R. (Richard), Hulick, P. J. (Peter J.), Hunter, D. J. (David J.), Huntsman, D. G. (David G.), Idos, G. (Gregory), Imyanitov, E. N. (Evgeny N.), Ingles, S. A. (Sue Ann), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, P. (Paul), Jenkins, M. A. (Mark A.), Johansson, M. (Mattias), Johansson, M. (Mikael), John, E. M. (Esther M.), Joshi, A. D. (Amit D.), Kaneva, R. (Radka), Karlan, B. Y. (Beth Y.), Kelemen, L. E. (Linda E.), Kuhl, T. (Tabea), Khaw, K.-T. (Kay-Tee), Khusnutdinova, E. (Elza), Kibel, A. S. (Adam S.), Kiemeney, L. A. (Lambertus A.), Kim, J. (Jeri), Kjaer, S. K. (Susanne K.), Knight, J. A. (Julia A.), Kogevinas, M. (Manolis), Kote-Jarai, Z. (Zsofia), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kupryjanczyk, J. (Jolanta), Lacko, M. (Martin), Lam, S. (Stephan), Lambrechts, D. (Diether), Landi, M. T. (Maria Teresa), Lazarus, P. (Philip), Le, N. D. (Nhu D.), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lenz, H.-J. (Heinz-Josef), Leslie, G. (Goska), Lessel, D. (Davor), Lester, J. (Jenny), Levine, D. A. (Douglas A.), Li, L. (Li), Li, C. I. (Christopher I.), Lindblom, A. (Annika), Lindor, N. M. (Noralane M.), Liu, G. (Geoffrey), Loupakis, F. (Fotios), Lubinski, J. (Jan), Maehle, L. (Lovise), Maier, C. (Christiane), Mannermaa, A. (Arto), Le Marchand, L. (Loic), Margolin, S. (Sara), May, T. (Taymaa), McGuffog, L. (Lesley), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, A. (Austin), Milne, R. L. (Roger L.), MacInnis, R. J. (Robert J.), Modugno, F. (Francesmary), Montagna, M. (Marco), Moreno, V. (Victor), Moysich, K. B. (Kirsten B.), Mucci, L. (Lorelei), Muir, K. (Kenneth), Mulligan, A. M. (Anna Marie), Nathanson, K. L. (Katherine L.), Neal, D. E. (David E.), Ness, A. R. (Andrew R.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Newcomb, P. A. (Polly A.), Newcomb, L. F. (Lisa F.), Nielsen, F. C. (Finn Cilius), Nikitina-Zake, L. (Liene), Nordestgaard, B. G. (Borge G.), Nussbaum, R. L. (Robert L.), Offit, K. (Kenneth), Olah, E. (Edith), Al Olama, A. A. (Ali Amin), Olopade, O. I. (Olufunmilayo I.), Olshan, A. F. (Andrew F.), Olsson, H. (Hakan), Osorio, A. (Ana), Pandha, H. (Hardev), Park, J. Y. (Jong Y.), Pashayan, N. (Nora), Parsons, M. T. (Michael T.), Pejovic, T. (Tanja), Penney, K. L. (Kathryn L.), Peters, W. H. (Wilbert H. M.), Phelan, C. M. (Catherine M.), Phipps, A. I. (Amanda I.), Plaseska-Karanfilska, D. (Dijana), Pring, M. (Miranda), Prokofyeva, D. (Darya), Radice, P. (Paolo), Stefansson, K. (Kari), Ramus, S. J. (Susan J.), Raskin, L. (Leon), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), van Rensburg, E. J. (Elizabeth J.), Riggan, M. J. (Marjorie J.), Risch, H. A. (Harvey A.), Risch, A. (Angela), Roobol, M. J. (Monique J.), Rosenstein, B. S. (Barry S.), Rossing, M. A. (Mary Anne), De Ruyck, K. (Kim), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schabath, M. B. (Matthew B.), Schleutker, J. (Johanna), Schmidt, M. K. (Marjanka K.), Setiawan, V. W. (V. Wendy), Shen, H. (Hongbing), Siegel, E. M. (Erin M.), Sieh, W. (Weiva), Singer, C. F. (Christian F.), Slattery, M. L. (Martha L.), Sorensen, K. D. (Karina Dalsgaard), Southey, M. C. (Melissa C.), Spurdle, A. B. (Amanda B.), Stanford, J. L. (Janet L.), Stevens, V. L. (Victoria L.), Stintzing, S. (Sebastian), Stone, J. (Jennifer), Sundfeldt, K. (Karin), Sutphen, R. (Rebecca), Swerdlow, A. J. (Anthony J.), Tajara, E. H. (Eloiza H.), Tangen, C. M. (Catherine M.), Tardon, A. (Adonina), Taylor, J. A. (Jack A.), Teare, M. D. (M. Dawn), Teixeira, M. R. (Manuel R.), Terry, M. B. (Mary Beth), Terry, K. L. (Kathryn L.), Thibodeau, S. N. (Stephen N.), Thomassen, M. (Mads), Bjorge, L. (Line), Tischkowitz, M. (Marc), Toland, A. E. (Amanda E.), Torres, D. (Diana), Townsend, P. A. (Paul A.), Travis, R. C. (Ruth C.), Tung, N. (Nadine), Tworoger, S. S. (Shelley S.), Ulrich, C. M. (Cornelia M.), Usmani, N. (Nawaid), Vachon, C. M. (Celine M.), Van Nieuwenhuysen, E. (Els), Vega, A. (Ana), Aguado-Barrera, M. E. (Miguel Elias), Wang, Q. (Qin), Webb, P. M. (Penelope M.), Weinberg, C. R. (Clarice R.), Weinstein, S. (Stephanie), Weissler, M. C. (Mark C.), Weitzel, J. N. (Jeffrey N.), West, C. M. (Catharine M. L.), White, E. (Emily), Whittemore, A. S. (Alice S.), Wichmann, H.-E. (H-Erich), Wiklund, F. (Fredrik), Winqvist, R. (Robert), Wolk, A. (Alicja), Woll, P. (Penella), Woods, M. (Michael), Wu, A. H. (Anna H.), Wu, X. (Xifeng), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zienolddiny, S. (Shanbeh), Ziogas, A. (Argyrios), Zorn, K. K. (Kristin K.), Lane, J. M. (Jacqueline M.), Saxena, R. (Richa), Thomas, D. (Duncan), Hung, R. J. (Rayjean J.), Diergaarde, B. (Brenda), Mckay, J. (James), Peters, U. (Ulrike), Hsu, L. (Li), Garcia-Closas, M. (Montserrat), Eeles, R. A. (Rosalind A.), Chenevix-Trench, G. (Georgia), Brennan, P. J. (Paul J.), Haiman, C. A. (Christopher A.), Simard, J. (Jacques), Easton, D. F. (Douglas F.), Gruber, S. B. (Stephen B.), Pharoah, P. D. (Paul D. P.), Price, A. L. (Alkes L.), Pasaniuc, B. (Bogdan), Amos, C. I. (Christopher I.), Kraft, P. (Peter), and Lindstrom, S. (Sara)
Abstract: Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (rg = 0.57, p = 4.6 × 10−8), breast and ovarian cancer (rg = 0.24, p = 7 × 10−5), breast and lung cancer (rg = 0.18, p =1.5 × 10−6) and breast and colorectal cancer (rg = 0.15, p = 1.1 × 10−4). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.
Published: 2019

11. Polygenic risk scores for prediction of breast cancer and breast cancer subtypes

Author: Mavaddat, N. (Nasim), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Lush, M. (Michael), Fachal, L. (Laura), Lee, A. (Andrew), Tyrer, J. P. (Jonathan P.), Chen, T.-H. (Ting-Huei), Wang, Q. (Qin), Bolla, M. K. (Manjeet K.), Yang, X. (Xin), Adank, M. A. (Muriel A.), Ahearn, T. (Thomas), Aittomaki, K. (Kristiina), Allen, J. (Jamie), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Barrdahl, M. (Myrto), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Bremer, M. (Michael), Brenner, H. (Hermann), Brentnall, A. (Adam), Brock, I. W. (Ian W.), Brooks-Wilson, A. (Angela), Brucker, S. Y. (Sara Y.), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Campa, D. (Daniele), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chanock, S. J. (Stephen J.), Chlebowski, R. (Rowan), Christiansen, H. (Hans), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cordina-Duverger, E. (Emilie), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doerk, T. (Thilo), dos-Santos-Silva, I. (Isabel), Dumont, M. (Martine), Durcan, L. (Lorraine), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Foersti, A. (Asta), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Georgoulias, V. (Vassilios), Giles, G. G. (Graham G.), Gilyazova, I. R. (Irina R.), Glendon, G. (Gord), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Gronwald, J. (Jacek), Grundy, A. (Anne), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Hankinson, S. E. (Susan E.), Harkness, E. F. (Elaine F.), Hart, S. N. (Steven N.), He, W. (Wei), Hein, A. (Alexander), Heyworth, J. (Jane), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Jakimovska, M. (Milena), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, M. E. (Michael E.), Jukkola-Vuorinen, A. (Arja), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kaczmarek, K. (Katarzyna), Kataja, V. (Vesa), Keeman, R. (Renske), Kerin, M. J. (Michael J.), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Knight, J. A. (Julia A.), Ko, Y.-D. (Yon-Dschun), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kuehl, T. (Tabea), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lilyquist, J. (Jenna), Lindblom, A. (Annika), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Long, J. (Jirong), Lubinski, J. (Jan), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maishman, T. (Tom), Makalic, E. (Enes), Kostovska, I. M. (Ivana Maleva), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Middha, P. (Pooja), Miller, N. (Nicola), Moreno, F. (Fernando), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Munoz-Garzon, V. M. (Victor M.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Norman, A. (Aaron), Offit, K. (Kenneth), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Pankratz, V. S. (V. Shane), Park-Simon, T.-W. (Tjoung-Won), Perez, J. I. (Jose I. A.), Perez-Barrios, C. (Clara), Peterlongo, P. (Paolo), Peto, J. (Julian), Pinchev, M. (Mila), Plaseska-Karanfilska, D. (Dijana), Polley, E. C. (Eric C.), Prentice, R. (Ross), Presneau, N. (Nadege), Prokofyeva, D. (Darya), Purrington, K. (Kristen), Pylkäs, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Rau-Murthy, R. (Rohini), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Robson, M. (Mark), Romero, A. (Atocha), Ruddy, K. J. (Kathryn J.), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, D. F. (Daniel F.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schumacher, F. (Fredrick), Schuermann, P. (Peter), Schwentner, L. (Lukas), Scott, C. (Christopher), Scott, R. J. (Rodney J.), Seynaeve, C. (Caroline), Shah, M. (Mitul), Sherman, M. E. (Mark E.), Shrubsole, M. J. (Martha J.), Shu, X.-O. (Xiao-Ou), Slager, S. (Susan), Smeets, A. (Ann), Sohn, C. (Christof), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stegmaier, C. (Christa), Stone, J. (Jennifer), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Thoene, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Truong, T. (Therese), Tzardi, M. (Maria), Ulmer, H.-U. (Hans-Ulrich), Untch, M. (Michael), Vachon, C. M. (Celine M.), van Veen, E. M. (Elke M.), Vijai, J. (Joseph), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Wildiers, H. (Hans), Willett, W. (Walter), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Zhang, Y. (Yan), Zheng, W. (Wei), Ziogas, A. (Argyrios), Clarke, C. (Christine), Balleine, R. (Rosemary), Baxter, R. (Robert), Braye, S. (Stephen), Carpenter, J. (Jane), Dahlstrom, J. (Jane), Forbes, J. (John), Lee, C. S. (C. Soon), Marsh, D. (Deborah), Morey, A. (Adrienne), Pathmanathan, N. (Nirmala), Scott, R. (Rodney), Simpson, P. (Peter), Spigelman, A. (Allan), Wilcken, N. (Nicholas), Yip, D. (Desmond), Zeps, N. (Nikolajs), Sexton, A. (Adrienne), Dobrovic, A. (Alex), Christian, A. (Alice), Trainer, A. (Alison), Fellows, A. (Andrew), Shelling, A. (Andrew), De Fazio, A. (Anna), Blackburn, A. (Anneke), Crook, A. (Ashley), Meiser, B. (Bettina), Patterson, B. (Briony), Clarke, C. (Christobel), Saunders, C. (Christobel), Hunt, C. (Clare), Scott, C. (Clare), Amor, D. (David), Ortega, D. G. (David Gallego), Marsh, D. (Deb), Edkins, E. (Edward), Salisbury, E. (Elizabeth), Haan, E. (Eric), Macrea, F. (Finlay), Farshid, G. (Gelareh), Lindeman, G. (Geoff), Trench, G. (Georgia), Mann, G. (Graham), Giles, G. (Graham), Gill, G. (Grantley), Thorne, H. (Heather), Campbell, I. (Ian), Hickie, I. (Ian), Caldon, L. (Liz), Winship, I. (Ingrid), Cui, J. (James), Flanagan, J. (James), Kollias, J. (James), Visvader, J. (Jane), Taylor, J. (Jessica), Burke, J. (Jo), Saunus, J. (Jodi), Forbs, J. (John), Hopper, J. (John), Beesley, J. (Jonathan), Kirk, J. (Judy), French, J. (Juliet), Tucker, K. (Kathy), Wu, K. (Kathy), Phillips, K. (Kelly), Forrest, L. (Laura), Lipton, L. (Lara), Andrews, L. (Leslie), Lobb, L. (Lizz), Walker, L. (Logan), Kentwell, M. (Maira), Spurdle, M. (Mandy), Cummings, M. (Margaret), Gleeson, M. (Margaret), Harris, M. (Marion), Jenkins, M. (Mark), Young, M. A. (Mary Anne), Delatycki, M. (Martin), Wallis, M. (Mathew), Burgess, M. (Matthew), Brown, M. (Melissa), Southey, M. (Melissa), Bogwitz, M. (Michael), Field, M. (Michael), Friedlander, M. (Michael), Gattas, M. (Michael), Saleh, M. (Mona), Aghmesheh, M. (Morteza), Hayward, N. (Nick), Pachter, N. (Nick), Cohen, P. (Paul), Duijf, P. (Pascal), James, P. (Paul), Simpson, P. (Pete), Fong, P. (Peter), Butow, P. (Phyllis), Williams, R. (Rachael), Kefford, R. (Rick), Simard, J. (Jacques), Balleine, R.-M. (Rose-Mary), Dawson, S.-J. (Sarah-Jane), Lok, S. (Sheau), O'connell, S. (Shona), Greening, S. (Sian), Nightingale, S. (Sophie), Edwards, S. (Stacey), Fox, S. (Stephen), McLachlan, S.-A. (Sue-Anne), Lakhani, S. (Sunil), Dudding, T. (Tracy), Antill, Y. (Yoland), Sahlberg, K. K. (Kristine K.), Ottestad, L. (Lars), Karesen, R. (Rolf), Schlichting, E. (Ellen), Holmen, M. M. (Marit Muri), Sauer, T. (Toril), Haakensen, V. (Vilde), Engebraten, O. (Olav), Naume, B. (Bjorn), Fossa, A. (Alexander), Kiserud, C. E. (Cecile E.), Reinertsen, K. V. (Kristin, V), Helland, A. (Aslaug), Riis, M. (Margit), Geisler, J. (Juergen), Dunning, A. M. (Alison M.), Thompson, D. J. (Deborah J.), Chenevix-Trench, G. (Georgia), Chang-Claude, J. (Jenny), Schmidt, M. K. (Marjanka K.), Hall, P. (Per), Milne, R. L. (Roger L.), Pharoah, P. D. (Paul D. P.), Antoniou, A. C. (Antonis C.), Chatterjee, N. (Nilanjan), Kraft, P. (Peter), Garcia-Closas, M. (Montserrat), Easton, D. F. (Douglas F.), Mavaddat, N. (Nasim), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Lush, M. (Michael), Fachal, L. (Laura), Lee, A. (Andrew), Tyrer, J. P. (Jonathan P.), Chen, T.-H. (Ting-Huei), Wang, Q. (Qin), Bolla, M. K. (Manjeet K.), Yang, X. (Xin), Adank, M. A. (Muriel A.), Ahearn, T. (Thomas), Aittomaki, K. (Kristiina), Allen, J. (Jamie), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Barrdahl, M. (Myrto), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Bremer, M. (Michael), Brenner, H. (Hermann), Brentnall, A. (Adam), Brock, I. W. (Ian W.), Brooks-Wilson, A. (Angela), Brucker, S. Y. (Sara Y.), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Campa, D. (Daniele), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chanock, S. J. (Stephen J.), Chlebowski, R. (Rowan), Christiansen, H. (Hans), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cordina-Duverger, E. (Emilie), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doerk, T. (Thilo), dos-Santos-Silva, I. (Isabel), Dumont, M. (Martine), Durcan, L. (Lorraine), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Foersti, A. (Asta), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Georgoulias, V. (Vassilios), Giles, G. G. (Graham G.), Gilyazova, I. R. (Irina R.), Glendon, G. (Gord), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Gronwald, J. (Jacek), Grundy, A. (Anne), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Hankinson, S. E. (Susan E.), Harkness, E. F. (Elaine F.), Hart, S. N. (Steven N.), He, W. (Wei), Hein, A. (Alexander), Heyworth, J. (Jane), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Jakimovska, M. (Milena), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, M. E. (Michael E.), Jukkola-Vuorinen, A. (Arja), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kaczmarek, K. (Katarzyna), Kataja, V. (Vesa), Keeman, R. (Renske), Kerin, M. J. (Michael J.), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Knight, J. A. (Julia A.), Ko, Y.-D. (Yon-Dschun), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kuehl, T. (Tabea), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lilyquist, J. (Jenna), Lindblom, A. (Annika), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Long, J. (Jirong), Lubinski, J. (Jan), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maishman, T. (Tom), Makalic, E. (Enes), Kostovska, I. M. (Ivana Maleva), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Middha, P. (Pooja), Miller, N. (Nicola), Moreno, F. (Fernando), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Munoz-Garzon, V. M. (Victor M.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Norman, A. (Aaron), Offit, K. (Kenneth), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Pankratz, V. S. (V. Shane), Park-Simon, T.-W. (Tjoung-Won), Perez, J. I. (Jose I. A.), Perez-Barrios, C. (Clara), Peterlongo, P. (Paolo), Peto, J. (Julian), Pinchev, M. (Mila), Plaseska-Karanfilska, D. (Dijana), Polley, E. C. (Eric C.), Prentice, R. (Ross), Presneau, N. (Nadege), Prokofyeva, D. (Darya), Purrington, K. (Kristen), Pylkäs, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Rau-Murthy, R. (Rohini), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Robson, M. (Mark), Romero, A. (Atocha), Ruddy, K. J. (Kathryn J.), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, D. F. (Daniel F.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schumacher, F. (Fredrick), Schuermann, P. (Peter), Schwentner, L. (Lukas), Scott, C. (Christopher), Scott, R. J. (Rodney J.), Seynaeve, C. (Caroline), Shah, M. (Mitul), Sherman, M. E. (Mark E.), Shrubsole, M. J. (Martha J.), Shu, X.-O. (Xiao-Ou), Slager, S. (Susan), Smeets, A. (Ann), Sohn, C. (Christof), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stegmaier, C. (Christa), Stone, J. (Jennifer), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Thoene, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Truong, T. (Therese), Tzardi, M. (Maria), Ulmer, H.-U. (Hans-Ulrich), Untch, M. (Michael), Vachon, C. M. (Celine M.), van Veen, E. M. (Elke M.), Vijai, J. (Joseph), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Wildiers, H. (Hans), Willett, W. (Walter), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Zhang, Y. (Yan), Zheng, W. (Wei), Ziogas, A. (Argyrios), Clarke, C. (Christine), Balleine, R. (Rosemary), Baxter, R. (Robert), Braye, S. (Stephen), Carpenter, J. (Jane), Dahlstrom, J. (Jane), Forbes, J. (John), Lee, C. S. (C. Soon), Marsh, D. (Deborah), Morey, A. (Adrienne), Pathmanathan, N. (Nirmala), Scott, R. (Rodney), Simpson, P. (Peter), Spigelman, A. (Allan), Wilcken, N. (Nicholas), Yip, D. (Desmond), Zeps, N. (Nikolajs), Sexton, A. (Adrienne), Dobrovic, A. (Alex), Christian, A. (Alice), Trainer, A. (Alison), Fellows, A. (Andrew), Shelling, A. (Andrew), De Fazio, A. (Anna), Blackburn, A. (Anneke), Crook, A. (Ashley), Meiser, B. (Bettina), Patterson, B. (Briony), Clarke, C. (Christobel), Saunders, C. (Christobel), Hunt, C. (Clare), Scott, C. (Clare), Amor, D. (David), Ortega, D. G. (David Gallego), Marsh, D. (Deb), Edkins, E. (Edward), Salisbury, E. (Elizabeth), Haan, E. (Eric), Macrea, F. (Finlay), Farshid, G. (Gelareh), Lindeman, G. (Geoff), Trench, G. (Georgia), Mann, G. (Graham), Giles, G. (Graham), Gill, G. (Grantley), Thorne, H. (Heather), Campbell, I. (Ian), Hickie, I. (Ian), Caldon, L. (Liz), Winship, I. (Ingrid), Cui, J. (James), Flanagan, J. (James), Kollias, J. (James), Visvader, J. (Jane), Taylor, J. (Jessica), Burke, J. (Jo), Saunus, J. (Jodi), Forbs, J. (John), Hopper, J. (John), Beesley, J. (Jonathan), Kirk, J. (Judy), French, J. (Juliet), Tucker, K. (Kathy), Wu, K. (Kathy), Phillips, K. (Kelly), Forrest, L. (Laura), Lipton, L. (Lara), Andrews, L. (Leslie), Lobb, L. (Lizz), Walker, L. (Logan), Kentwell, M. (Maira), Spurdle, M. (Mandy), Cummings, M. (Margaret), Gleeson, M. (Margaret), Harris, M. (Marion), Jenkins, M. (Mark), Young, M. A. (Mary Anne), Delatycki, M. (Martin), Wallis, M. (Mathew), Burgess, M. (Matthew), Brown, M. (Melissa), Southey, M. (Melissa), Bogwitz, M. (Michael), Field, M. (Michael), Friedlander, M. (Michael), Gattas, M. (Michael), Saleh, M. (Mona), Aghmesheh, M. (Morteza), Hayward, N. (Nick), Pachter, N. (Nick), Cohen, P. (Paul), Duijf, P. (Pascal), James, P. (Paul), Simpson, P. (Pete), Fong, P. (Peter), Butow, P. (Phyllis), Williams, R. (Rachael), Kefford, R. (Rick), Simard, J. (Jacques), Balleine, R.-M. (Rose-Mary), Dawson, S.-J. (Sarah-Jane), Lok, S. (Sheau), O'connell, S. (Shona), Greening, S. (Sian), Nightingale, S. (Sophie), Edwards, S. (Stacey), Fox, S. (Stephen), McLachlan, S.-A. (Sue-Anne), Lakhani, S. (Sunil), Dudding, T. (Tracy), Antill, Y. (Yoland), Sahlberg, K. K. (Kristine K.), Ottestad, L. (Lars), Karesen, R. (Rolf), Schlichting, E. (Ellen), Holmen, M. M. (Marit Muri), Sauer, T. (Toril), Haakensen, V. (Vilde), Engebraten, O. (Olav), Naume, B. (Bjorn), Fossa, A. (Alexander), Kiserud, C. E. (Cecile E.), Reinertsen, K. V. (Kristin, V), Helland, A. (Aslaug), Riis, M. (Margit), Geisler, J. (Juergen), Dunning, A. M. (Alison M.), Thompson, D. J. (Deborah J.), Chenevix-Trench, G. (Georgia), Chang-Claude, J. (Jenny), Schmidt, M. K. (Marjanka K.), Hall, P. (Per), Milne, R. L. (Roger L.), Pharoah, P. D. (Paul D. P.), Antoniou, A. C. (Antonis C.), Chatterjee, N. (Nilanjan), Kraft, P. (Peter), Garcia-Closas, M. (Montserrat), and Easton, D. F. (Douglas F.)
Abstract: Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57–1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628–0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.
Published: 2019

12. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Author: Colombo, M. (Mara), Lòpez-Perolio, I. (Irene), Meeks, H.D. (Huong D.), Caleca, L. (Laura), Parsons, M. (Marilyn), Li, H. (Hongyan), De Vecchi, G. (Giovanna), Tudini, E. (Emma), Foglia, C. (Claudia), Mondini, P. (Patrizia), Manoukian, S. (Siranoush), Behar, R. (Raquel), Garcia, E.B.G., Meindl, A. (Alfons), Montagna, M. (Marco), Niederacher, D. (Dieter), Schmidt, A.Y. (Ane Y.), Varesco, L. (Liliana), Wappenschmidt, B. (Barbara), Bolla, M.K. (Manjeet K.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Wang, Q. (Qin), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadel, A. (Alicia), Benítez, J. (Javier), Boeckx, B. (Bram), Bogdanova, N.V. (Natalia V.), Bojesen, S.E. (Stig), Bonnani, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Conroy, D.M. (Don M.), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Devilee, P. (Peter), Dörk, T. (Thilo), Eriksson, M. (Mats), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Gabrielson, M. (Marike), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), González-Neira, A. (Anna), Guénel, P. (Pascal), Haiman, C.A. (Christopher), Hall, P. (Per), Hamann, U. (Ute), Hartman, M. (Mikael), Hauke, J. (Jan), Hollestelle, A. (Antoinette), Hopper, J.L. (John), Jakubowska, A. (Anna), Jung, A. (Audrey), Kosma, V.-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loid), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Margolin, S. (Sara), Miao, H. (Hui), Milne, R.L. (Roger), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Olson, J.E. (Janet), Peterlongo, P. (Paolo), Peto, J. (Julian), Pylkäs, K. (Katri), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M.J. (Minouk J.), See, M.H. (Mee Hoong), Southey, M.C. (Melissa C.), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo H.), Toland, A.E. (Amanda E.), Tomlinson, I.P. (Ian), Truong, T. (Thérèse), van Asperen, C.J. (Christi J.), Ouweland, A.M.W. (Ans) van den, Kolk, L.E. (Lizet) van der, Winqvist, R. (Robert), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Dunning, A.M. (Alison), Easton, D.F. (Douglas), Henderson, A. (Alex), Hogervorst, F.B. (Frans B.L.), Izatt, L. (Louise), Offitt, K. (Kenneth), Side, L. (Lucy), Rensburg, E.J. (Elizabeth) van, McGuffog, L. (Lesley), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Goldgar, D.E. (David E.), Hoya, M.d.l. (Miguel de la), Radice, P. (Paolo), Colombo, M. (Mara), Lòpez-Perolio, I. (Irene), Meeks, H.D. (Huong D.), Caleca, L. (Laura), Parsons, M. (Marilyn), Li, H. (Hongyan), De Vecchi, G. (Giovanna), Tudini, E. (Emma), Foglia, C. (Claudia), Mondini, P. (Patrizia), Manoukian, S. (Siranoush), Behar, R. (Raquel), Garcia, E.B.G., Meindl, A. (Alfons), Montagna, M. (Marco), Niederacher, D. (Dieter), Schmidt, A.Y. (Ane Y.), Varesco, L. (Liliana), Wappenschmidt, B. (Barbara), Bolla, M.K. (Manjeet K.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Wang, Q. (Qin), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadel, A. (Alicia), Benítez, J. (Javier), Boeckx, B. (Bram), Bogdanova, N.V. (Natalia V.), Bojesen, S.E. (Stig), Bonnani, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Conroy, D.M. (Don M.), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Devilee, P. (Peter), Dörk, T. (Thilo), Eriksson, M. (Mats), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Gabrielson, M. (Marike), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), González-Neira, A. (Anna), Guénel, P. (Pascal), Haiman, C.A. (Christopher), Hall, P. (Per), Hamann, U. (Ute), Hartman, M. (Mikael), Hauke, J. (Jan), Hollestelle, A. (Antoinette), Hopper, J.L. (John), Jakubowska, A. (Anna), Jung, A. (Audrey), Kosma, V.-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loid), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Margolin, S. (Sara), Miao, H. (Hui), Milne, R.L. (Roger), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Olson, J.E. (Janet), Peterlongo, P. (Paolo), Peto, J. (Julian), Pylkäs, K. (Katri), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M.J. (Minouk J.), See, M.H. (Mee Hoong), Southey, M.C. (Melissa C.), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo H.), Toland, A.E. (Amanda E.), Tomlinson, I.P. (Ian), Truong, T. (Thérèse), van Asperen, C.J. (Christi J.), Ouweland, A.M.W. (Ans) van den, Kolk, L.E. (Lizet) van der, Winqvist, R. (Robert), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Dunning, A.M. (Alison), Easton, D.F. (Douglas), Henderson, A. (Alex), Hogervorst, F.B. (Frans B.L.), Izatt, L. (Louise), Offitt, K. (Kenneth), Side, L. (Lucy), Rensburg, E.J. (Elizabeth) van, McGuffog, L. (Lesley), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Goldgar, D.E. (David E.), Hoya, M.d.l. (Miguel de la), and Radice, P. (Paolo)
Abstract: Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR (dPCR), the BRCA2 isoforms retaining or missing exon 3. In addition, the combined odds ratio for causality of the variant was estimated using genetic and clinical data, and its associated cancer risk was estimated by case-control analysis in 83,636 individuals. Co-occurrence in trans with pathogenic BRCA2 variants was assessed in 5,382 families. Exon 3 exclusion rate was 4.5-fold higher in variant carriers (13%) than controls (3%), indicating an exclusion rate for the c.68-7T > A allele of approximately 20%. The posterior probability of pathogenicity was 7.44 × 10-115. There was neither evidence for increased risk of breast cancer (OR 1.03; 95% CI 0.86-1.24) nor for a deleterious effect of the variant when co-occurring with pathogenic variants. Our data provide for the first time robust evidence of the nonpathogenicity of the BRCA2 c.68-7T > A. Genetic and quantitative transcript analyses together inform the threshold for the ratio between functional and altered BRCA2 isoforms compatible with normal cell function. These findings might be exploited to assess the relevance for cancer risk of other BRCA2 spliceogenic variants.
Published: 2018
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13. The BRCA2 c.68‐7T > A variant is not pathogenic:a model for clinical calibration of spliceogenicity

Author: Colombo, M. (Mara), Lopez-Perolio, I. (Irene), Meeks, H. D. (Huong D.), Caleca, L. (Laura), Parsons, M. T. (Michael T.), Li, H. (Hongyan), De Vecchi, G. (Giovanna), Tudini, E. (Emma), Foglia, C. (Claudia), Mondini, P. (Patrizia), Manoukian, S. (Siranoush), Behar, R. (Raquel), Garcia, E. B. (Encarna B. Gomez), Meindl, A. (Alfons), Montagna, M. (Marco), Niederacher, D. (Dieter), Schmidt, A. Y. (Ane Y.), Varesco, L. (Liliana), Wappenschmidt, B. (Barbara), Bolla, M. K. (Manjeet K.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Wang, Q. (Qin), Aittomäki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M. W. (Matthias W.), Beeghly-Fadel, A. (Alicia), Benitez, J. (Javier), Boeckx, B. (Bram), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Devilee, P. (Peter), Dork, T. (Thilo), Eriksson, M. (Mikael), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Gabrielson, M. (Marike), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hartman, M. (Mikael), Hauke, J. (Jan), Hollestelle, A. (Antoinette), Hopper, J. L. (John L.), Jakubowska, A. (Anna), Jung, A. (Audrey), Kosma, V.-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loid), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Margolin, S. (Sara), Miao, H. (Hui), Milne, R. L. (Roger L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Olson, J. E. (Janet E.), Peterlongo, P. (Paolo), Peto, J. (Julian), Pylkäs, K. (Katri), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), See, M. H. (Mee Hoong), Southey, M. C. (Melissa C.), Swerdlow, A. (Anthony), Teo, S. H. (Soo H.), Toland, A. E. (Amanda E.), Tomlinson, I. (Ian), Truong, T. (Therese), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van der Kolk, L. E. (Lizet E.), Winqvist, R. (Robert), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Henderson, A. (Alex), Hogervorst, F. B. (Frans B. L.), Izatt, L. (Louise), Offitt, K. (Kenneth), Side, L. E. (Lucy E.), van Rensburg, E. J. (Elizabeth J.), McGuffog, L. (Lesley), Antoniou, A. C. (Antonis C.), Chenevix-Trench, G. (Georgia), Spurdle, A. B. (Amanda B.), Goldgar, D. E. (David E.), de la Hoya, M. (Miguel), Radice, P. (Paolo), Colombo, M. (Mara), Lopez-Perolio, I. (Irene), Meeks, H. D. (Huong D.), Caleca, L. (Laura), Parsons, M. T. (Michael T.), Li, H. (Hongyan), De Vecchi, G. (Giovanna), Tudini, E. (Emma), Foglia, C. (Claudia), Mondini, P. (Patrizia), Manoukian, S. (Siranoush), Behar, R. (Raquel), Garcia, E. B. (Encarna B. Gomez), Meindl, A. (Alfons), Montagna, M. (Marco), Niederacher, D. (Dieter), Schmidt, A. Y. (Ane Y.), Varesco, L. (Liliana), Wappenschmidt, B. (Barbara), Bolla, M. K. (Manjeet K.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Wang, Q. (Qin), Aittomäki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M. W. (Matthias W.), Beeghly-Fadel, A. (Alicia), Benitez, J. (Javier), Boeckx, B. (Bram), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Conroy, D. M. (Don M.), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Devilee, P. (Peter), Dork, T. (Thilo), Eriksson, M. (Mikael), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Gabrielson, M. (Marike), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hartman, M. (Mikael), Hauke, J. (Jan), Hollestelle, A. (Antoinette), Hopper, J. L. (John L.), Jakubowska, A. (Anna), Jung, A. (Audrey), Kosma, V.-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loid), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Margolin, S. (Sara), Miao, H. (Hui), Milne, R. L. (Roger L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Olson, J. E. (Janet E.), Peterlongo, P. (Paolo), Peto, J. (Julian), Pylkäs, K. (Katri), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), See, M. H. (Mee Hoong), Southey, M. C. (Melissa C.), Swerdlow, A. (Anthony), Teo, S. H. (Soo H.), Toland, A. E. (Amanda E.), Tomlinson, I. (Ian), Truong, T. (Therese), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van der Kolk, L. E. (Lizet E.), Winqvist, R. (Robert), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Dunning, A. M. (Alison M.), Easton, D. F. (Douglas F.), Henderson, A. (Alex), Hogervorst, F. B. (Frans B. L.), Izatt, L. (Louise), Offitt, K. (Kenneth), Side, L. E. (Lucy E.), van Rensburg, E. J. (Elizabeth J.), McGuffog, L. (Lesley), Antoniou, A. C. (Antonis C.), Chenevix-Trench, G. (Georgia), Spurdle, A. B. (Amanda B.), Goldgar, D. E. (David E.), de la Hoya, M. (Miguel), and Radice, P. (Paolo)
Abstract: Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐time PCR and digital PCR (dPCR), the BRCA2 isoforms retaining or missing exon 3. In addition, the combined odds ratio for causality of the variant was estimated using genetic and clinical data, and its associated cancer risk was estimated by case‐control analysis in 83,636 individuals. Co‐occurrence in trans with pathogenic BRCA2 variants was assessed in 5,382 families. Exon 3 exclusion rate was 4.5‐fold higher in variant carriers (13%) than controls (3%), indicating an exclusion rate for the c.68‐7T > A allele of approximately 20%. The posterior probability of pathogenicity was 7.44 × 10⁻¹¹⁵. There was neither evidence for increased risk of breast cancer (OR 1.03; 95% CI 0.86–1.24) nor for a deleterious effect of the variant when co‐occurring with pathogenic variants. Our data provide for the first time robust evidence of the nonpathogenicity of the BRCA2 c.68‐7T > A. Genetic and quantitative transcript analyses together inform the threshold for the ratio between functional and altered BRCA2 isoforms compatible with normal cell function. These findings might be exploited to assess the relevance for cancer risk of other BRCA2 spliceogenic variants.
Published: 2018

14. Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation

Author: von Salomé, J. (Jenny), Liu, T. (Tao), Keihäs, M. (Markku), Morak, M. (Moni), Holinski-Feder, E. (Elke), Berry, I. R. (Ian R.), Moilanen, J. S. (Jukka S.), Baert-Desurmont, S. (Stéphanie), Lindblom, A. (Annika), Lagerstedt-Robinson, K. (Kristina), von Salomé, J. (Jenny), Liu, T. (Tao), Keihäs, M. (Markku), Morak, M. (Moni), Holinski-Feder, E. (Elke), Berry, I. R. (Ian R.), Moilanen, J. S. (Jukka S.), Baert-Desurmont, S. (Stéphanie), Lindblom, A. (Annika), and Lagerstedt-Robinson, K. (Kristina)
Abstract: Lynch syndrome (LS) predisposes to a spectrum of cancers and increases the lifetime risk of developing colorectal- or endometrial cancer to over 50%. Lynch syndrome is dominantly inherited and is caused by defects in DNA mismatch-repair genes MLH1, MSH2, MSH6 or PMS2, with the vast majority detected in MLH1 and MSH2. Recurrent LS-associated variants observed in apparently unrelated individuals, have either arisen de novo in different families due to mutation hotspots, or are inherited from a founder (a common ancestor) that lived several generations back. There are variants that recur in some populations while also acting as founders in other ethnic groups. Testing for founder mutations can facilitate molecular diagnosis of Lynch Syndrome more efficiently and more cost effective than screening for all possible mutations. Here we report a study of the missense mutation MLH1 c.2059C > T (p.Arg687Trp), a potential founder mutation identified in eight Swedish families and one Finnish family with Swedish ancestors. Haplotype analysis confirmed that the Finnish and Swedish families shared a haplotype of between 0.9 and 2.8 Mb. While MLH1 c.2059C > T exists worldwide, the Swedish haplotype was not found among mutation carriers from Germany or France, which indicates a common founder in the Swedish population. The geographic distribution of MLH1 c.2059C > T in Sweden suggests a single, ancient mutational event in the northern part of Sweden.
Published: 2018

15. Body mass index and breast cancer survival:a Mendelian randomization analysis

Author: Guo, Q. (Qi), Burgess, S. (Stephen), Turman, C. (Constance), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Lush, M. (Michael), Abraham, J. (Jean), Aittomaki, K. (Kristiina), Andrulis, I. L. (Irene L.), Apicella, C. (Carmel), Arndt, V. (Volker), Barrdahl, M. (Myrto), Benitez, J. (Javier), Berg, C. D. (Christine D.), Blomqvist, C. (Carl), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brand, J. S. (Judith S.), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Campa, D. (Daniele), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chin, S.-F. (Suet-Feung), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Cybulski, C. (Cezary), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Diver, W. R. (W. Ryan), Dunning, A. M. (Alison M.), Earl, H. M. (Helena M.), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gapstur, S. M. (Susan M.), Gaudet, M. M. (Mia M.), Giles, G. G. (Graham G.), Glendon, G. (Gord), Grip, M. (Mervi), Gronwald, J. (Jacek), Haeberle, L. (Lothar), Haiman, C. A. (Christopher A.), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S. (Susan), Hartikainen, J. M. (Jaana M.), Hein, A. (Alexander), Hiller, L. (Louise), Hogervorst, F. B. (Frans B.), Holleczek, B. (Bernd), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Humphreys, K. (Keith), Hunter, D. J. (David J.), Husing, A. (Anika), Jakubowska, A. (Anna), Jukkola-Vuorinen, A. (Arja), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kataja, V. (Vesa), Knight, J. A. (Julia A.), Koppert, L. B. (Linetta B.), Kosma, V.-M. (Veli-Matti), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lubinski, J. (Jan), Machiela, M. J. (Mitchell J.), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federik), Martens, J. W. (John W. M.), McLean, C. (Catriona), Menendez, P. (Primitiva), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Muranen, T. A. (Taru A.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olson, J. E. (Janet E.), Perez, J. I. (Jose I. A.), Peterlongo, P. (Paolo), Phillips, K.-A. (Kelly-Anne), Poole, C. J. (Christopher J.), Pylkas, K. (Katri), Radice, P. (Paolo), Rahman, N. (Nazneen), Rudiger, T. (Thomas), Rudolph, A. (Anja), Sawyer, E. J. (Elinor J.), Schumacher, F. (Fredrick), Seibold, P. (Petra), Seynaeve, C. (Caroline), Shah, M. (Mitul), Smeets, A. (Ann), Southey, M. C. (Melissa C.), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Tsimiklis, H. (Helen), Ulmer, H.-U. (Hans-Ulrich), Vachon, C. (Celine), van den Ouweland, A. M. (Ans M. W.), Van't Veer, L. J. (Laura J.), Wildiers, H. (Hans), Willett, W. (Walter), Winqvist, R. (Robert), Zamora, M. P. (M. Pilar), Chenevix-Trench, G. (Georgia), Dork, T. (Thilo), Easton, D. F. (Douglas F.), Garcia-Closas, M. (Montserrat), Kraft, P. (Peter), Hopper, J. L. (John L.), Zheng, W. (Wei), Schmidt, M. K. (Marjanka K.), and Pharoah, P. D. (Paul D. P.)
Subjects: Mendelian randomization, breast cancer survival, body mass index, epidemiology, genetics
Abstract: Background: There is increasing evidence that elevated body mass index (BMI) is associated with reduced survival for women with breast cancer. However, the underlying reasons remain unclear. We conducted a Mendelian randomization analysis to investigate a possible causal role of BMI in survival from breast cancer. Methods: We used individual-level data from six large breast cancer case-cohorts including a total of 36 210 individuals (2475 events) of European ancestry. We created a BMI genetic risk score (GRS) based on genotypes at 94 known BMI-associated genetic variants. Association between the BMI genetic score and breast cancer survival was analysed by Cox regression for each study separately. Study-specific hazard ratios were pooled using fixed-effect meta-analysis. Results: BMI genetic score was found to be associated with reduced breast cancer-specific survival for estrogen receptor (ER)-positive cases [hazard ratio (HR) = 1.11, per one-unit increment of GRS, 95% confidence interval (CI) 1.01–1.22, P = 0.03). We observed no association for ER-negative cases (HR = 1.00, per one-unit increment of GRS, 95% CI 0.89–1.13, P = 0.95). Conclusions: Our findings suggest a causal effect of increased BMI on reduced breast cancer survival for ER-positive breast cancer. There is no evidence of a causal effect of higher BMI on survival for ER-negative breast cancer cases.
Published: 2017

16. Genetic modifiers of CHEK2∗1100delC-associated breast cancer risk

Author: Muranen, T.A. (Taru A.), Greco, D. (Dario), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Khan, S. (Sofia), Hogervorst, F. (Frans), Verhoef, S. (S.), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R. (Robert), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Schoemaker, M.J. (Minouk J.), Swerdlow, A.J. (Anthony ), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia V.), Hall, P. (Per), Li, J. (Jingmei), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Kristensen, V. (Vessela), Borresen-Dale, A.-L. (Anne-Lise), Investigators, N. (Nbcs), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Couch, F.J. (Fergus), Olson, J.E. (Janet), Hillemans, P. (Peter), Park-Simon, T.-W., Brauch, H. (Hiltrud), Hamann, U. (Ute), Burwinkel, B. (Barbara), Marme, F. (Frederik), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Cox, A. (Angela), Cross, S.S. (Simon), Sawyer, E.J. (Elinor J.), Tomlinson, I.P. (Ian), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Lindblom, A. (Annika), Margolin, S. (Sara), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Andrulis, I.L. (Irene), Knight, J.A. (Julia A.), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Giles, G.G. (Graham G.), Milne, R.L. (Roger), Brenner, H. (Hermann), Arndt, V. (Volker), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Devilee, P. (Peter), Seynaeve, C.M. (Caroline), Hopper, J.L. (John), Southey, M.C. (Melissa), John, E.M. (Esther), Whittemore, A.S. (Alice), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), Nevanlinna, H. (Heli), Muranen, T.A. (Taru A.), Greco, D. (Dario), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Khan, S. (Sofia), Hogervorst, F. (Frans), Verhoef, S. (S.), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R. (Robert), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Schoemaker, M.J. (Minouk J.), Swerdlow, A.J. (Anthony ), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia V.), Hall, P. (Per), Li, J. (Jingmei), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Kristensen, V. (Vessela), Borresen-Dale, A.-L. (Anne-Lise), Investigators, N. (Nbcs), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Couch, F.J. (Fergus), Olson, J.E. (Janet), Hillemans, P. (Peter), Park-Simon, T.-W., Brauch, H. (Hiltrud), Hamann, U. (Ute), Burwinkel, B. (Barbara), Marme, F. (Frederik), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Cox, A. (Angela), Cross, S.S. (Simon), Sawyer, E.J. (Elinor J.), Tomlinson, I.P. (Ian), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Lindblom, A. (Annika), Margolin, S. (Sara), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Andrulis, I.L. (Irene), Knight, J.A. (Julia A.), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Giles, G.G. (Graham G.), Milne, R.L. (Roger), Brenner, H. (Hermann), Arndt, V. (Volker), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Devilee, P. (Peter), Seynaeve, C.M. (Caroline), Hopper, J.L. (John), Southey, M.C. (Melissa), John, E.M. (Esther), Whittemore, A.S. (Alice), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), and Nevanlinna, H. (Heli)
Abstract: Purpose:CHEK2∗1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2∗1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC).Methods:Using genotype data from 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2∗1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction.Results:The PRS conferred odds ratios (OR) of 1.59 (95% CI: 1.21-2.09) per standard deviation for BC for CHEK2∗1100delC carriers and 1.58 (1.55-1.62) for noncarriers. No evidence of deviation from the multiplicative model was found. The OR for the highest quintile of the PRS was 2.03 (0.86-4.78) for CHEK2∗1100delC carriers, placing them in the high risk category according to UK NICE guidelines. The OR for the lowest quintile was 0.52 (0.16-1.74), indicating a lifetime risk close to the population average.Conclusion:Our results confirm the multiplicative nature of risk effects conferred by CHEK2∗1100delC and the common susceptibility variants. Furthermore, the PRS could identify carriers at a high lifetime risk for clinical actions.
Published: 2017
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17. Body mass index and breast cancer survival

Author: Guo, Q. (Qi), Burgess, S. (Stephen), Turman, C. (Constance), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Lush, M. (Michael), Abraham, J. (Jean), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Apicella, C. (Carmel), Arndt, V. (Volker), Barrdahl, M. (Myrto), Benítez, J. (Javier), Berg, C.D. (Christine), Blomqvist, C. (Carl), Bojesen, S.E. (Stig), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Campa, D. (Daniele), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chin, S.-F. (Suet-Feung), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Cybulski, C. (Cezary), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Diver, W.R. (Ryan), Dunning, A.M. (Alison), Earl, H. (Helena), Eccles, D.M. (Diana M.), Ekici, A.B. (Arif B.), Eriksson, M. (Mats), Evans, D.G. (D Gareth), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia M.), Giles, G.G. (Graham G.), Glendon, G. (Gord), Grip, M. (Mervi), Gronwald, J. (Jacek), Haeberle, L. (Lothar), Haiman, C.A. (Christopher), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S.E. (Susan), Hartikainen, J.M. (Jaana M.), Hein, A. (Alexander), Hiller, L. (Louise), Hogervorst, F.B. (Frans B.), Holleczek, B. (B.), Hooning, M.J. (Maartje), Hoover, R.N. (Robert), Humphreys, K. (Keith), Hunter, D. (David), Hüsing, A. (Anika), Jakubowska, A. (Anna), Jukkola-Vuorinen, A. (Arja), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kataja, V. (Vesa), Knight, J.A. (Julia), Koppert, L.B. (Linetta), Kosma, V-M. (Veli-Matti), Kristensen, V.N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lindström, S. (Sara), Lissowska, J. (Jolanta), Lubinski, J. (Jan), Machiela, M.J. (Mitchell J.), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federik), Martens, J.W.M. (John), McLean, C.A. (Catriona Ann), Menéndez, P. (Primitiva), Milne, R.L. (Roger), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru A.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, S.F. (Sune F.), Nordestgaard, B.G. (Børge), Olson, J.E. (Janet), Perez, J.I.A. (Jose Ignacio Arias), Peterlongo, P. (Paolo), Phillips, K.-A. (Kelly-Anne), Poole, C.J. (Christopher J.), Pykäs, K. (Katri), Radice, P. (Paolo), Rahman, N. (Nazneen), Rud̈iger, T. (Thomas), Rudolph, A. (Anja), Sawyer, E.J. (Elinor), Schumacher, F.R. (Fredrick R), Seibold, P. (Petra), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Smeets, A. (Ann), Southey, M.C. (Melissa C.), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Tsimiklis, H. (Helen), Ulmer, H.U. (Hans), Vachon, C. (Celine), Ouweland, A.M.W. (Ans) van den, Veer, L.J. (Laura) van 't, Wildiers, H. (Hans), Willett, W.C. (Walter C.), Winqvist, R. (Robert), Zamora, M.P. (Pilar), Chenevix-Trench, G. (Georgia), Dörk, T. (Thilo), Easton, D.F. (Douglas), García-Closas, M. (Montserrat), Kraft, P. (Peter), Hopper, J.L. (John), Zheng, W. (Wei), Schmidt, M.K. (Marjanka), Pharoah, P.D.P. (Paul), Guo, Q. (Qi), Burgess, S. (Stephen), Turman, C. (Constance), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Lush, M. (Michael), Abraham, J. (Jean), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Apicella, C. (Carmel), Arndt, V. (Volker), Barrdahl, M. (Myrto), Benítez, J. (Javier), Berg, C.D. (Christine), Blomqvist, C. (Carl), Bojesen, S.E. (Stig), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Campa, D. (Daniele), Canzian, F. (Federico), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chin, S.-F. (Suet-Feung), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Cybulski, C. (Cezary), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Diver, W.R. (Ryan), Dunning, A.M. (Alison), Earl, H. (Helena), Eccles, D.M. (Diana M.), Ekici, A.B. (Arif B.), Eriksson, M. (Mats), Evans, D.G. (D Gareth), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia M.), Giles, G.G. (Graham G.), Glendon, G. (Gord), Grip, M. (Mervi), Gronwald, J. (Jacek), Haeberle, L. (Lothar), Haiman, C.A. (Christopher), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S.E. (Susan), Hartikainen, J.M. (Jaana M.), Hein, A. (Alexander), Hiller, L. (Louise), Hogervorst, F.B. (Frans B.), Holleczek, B. (B.), Hooning, M.J. (Maartje), Hoover, R.N. (Robert), Humphreys, K. (Keith), Hunter, D. (David), Hüsing, A. (Anika), Jakubowska, A. (Anna), Jukkola-Vuorinen, A. (Arja), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kataja, V. (Vesa), Knight, J.A. (Julia), Koppert, L.B. (Linetta), Kosma, V-M. (Veli-Matti), Kristensen, V.N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lindström, S. (Sara), Lissowska, J. (Jolanta), Lubinski, J. (Jan), Machiela, M.J. (Mitchell J.), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federik), Martens, J.W.M. (John), McLean, C.A. (Catriona Ann), Menéndez, P. (Primitiva), Milne, R.L. (Roger), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru A.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, S.F. (Sune F.), Nordestgaard, B.G. (Børge), Olson, J.E. (Janet), Perez, J.I.A. (Jose Ignacio Arias), Peterlongo, P. (Paolo), Phillips, K.-A. (Kelly-Anne), Poole, C.J. (Christopher J.), Pykäs, K. (Katri), Radice, P. (Paolo), Rahman, N. (Nazneen), Rud̈iger, T. (Thomas), Rudolph, A. (Anja), Sawyer, E.J. (Elinor), Schumacher, F.R. (Fredrick R), Seibold, P. (Petra), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Smeets, A. (Ann), Southey, M.C. (Melissa C.), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Tsimiklis, H. (Helen), Ulmer, H.U. (Hans), Vachon, C. (Celine), Ouweland, A.M.W. (Ans) van den, Veer, L.J. (Laura) van 't, Wildiers, H. (Hans), Willett, W.C. (Walter C.), Winqvist, R. (Robert), Zamora, M.P. (Pilar), Chenevix-Trench, G. (Georgia), Dörk, T. (Thilo), Easton, D.F. (Douglas), García-Closas, M. (Montserrat), Kraft, P. (Peter), Hopper, J.L. (John), Zheng, W. (Wei), Schmidt, M.K. (Marjanka), and Pharoah, P.D.P. (Paul)
Abstract: __Background:__ There is increasing evidence that elevated body mass index (BMI) is associated with reduced survival for women with breast cancer. However, the underlying reasons remain unclear. We conducted a Mendelian randomization analysis to investigate a possible causal role of BMI in survival from breast cancer. __Methods:__ We used individual-level data from six large breast cancer case-cohorts including a total of 36 210 individuals (2475 events) of European ancestry. We created a BMI genetic risk score (GRS) based on genotypes at 94 known BMI-associated genetic variants. Association between the BMI genetic score and breast cancer survival was analysed by Cox regression for each study separately. Study-specific hazard ratios were pooled using fixed-effect meta-analysis. __Results:__
Published: 2017
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18. PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

Author: Jiao, X. (Xiang), Aravidis, C. (Christos), Marikkannu, R. (Rajeshwari), Rantala, J. (Johanna), Picelli, S. (Simone), Adamovic, T. (Tatjana), Liu, T. (Tao), Maguire, P. (Paula), Kremeyer, B. (Barbara), Luo, L. (Liping), von Holst, S. (Susanna), Kontham, V. (Vinaykumar), Thutkawkorapin, J. (Jessada), Margolin, S. (Sara), Du, Q. (Quan), Lundin, J. (Johanna), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Lush, M. (Michael), Ambrosone, C.B. (Christine), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia N.), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Blomqvist, C. (Carl), Blot, W.J. (William), Boeckx, B. (Bram), Bojesen, S.E. (Stig), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, Q. (Qiuyin), Chang-Claude, J. (Jenny), NBCS Collaborators, (), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Deming-Halverson, S.L. (Sandra), Devilee, P. (Peter), Santos Silva, I. (Isabel) dos, Dörk, T. (Thilo), Eriksson, M. (Mats), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gabrielson, M. (Marike), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), González-Neira, A. (Anna), Guénel, P. (Pascal), Guo, Q. (Qi), Gündert, M. (Melanie), Haiman, C.A. (Christopher), Hallberg, E. (Emily), Hamann, U. (Ute), harrington, P. (Patricia), Hooning, M.J. (Maartje), Hopper, J.L. (John), Huang, G. (Guanmengqian), Jakubowska, A. (Anna), Jones, M. (Michael), Kerin, M. (Michael), Kosma, V-M. (Veli-Matti), Kristensen, V.N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lubinski, J. (Jan), Mannermaa, A. (Arto), Martens, J.W.M. (John), Meindl, A. (Alfons), Milne, R.L. (Roger), Mulligan, A.-M. (Anna-Marie), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Peto, J. (Julian), Pykäs, K. (Katri), Radice, P. (Paolo), Rhenius, V. (Valerie), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Simard, J. (Jacques), Southey, M.C. (Melissa C.), Swerdlow, A.J. (Anthony ), Truong, T. (Thérèse), Wendt, C. (Camilla), Winqvist, R. (Robert), Zheng, W. (Wei), kConFab/AOCS Investigators, (), Benítez, J. (Javier), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Czene, K. (Kamila), Hall, P. (Per), Lindblom, A. (Annika), Jiao, X. (Xiang), Aravidis, C. (Christos), Marikkannu, R. (Rajeshwari), Rantala, J. (Johanna), Picelli, S. (Simone), Adamovic, T. (Tatjana), Liu, T. (Tao), Maguire, P. (Paula), Kremeyer, B. (Barbara), Luo, L. (Liping), von Holst, S. (Susanna), Kontham, V. (Vinaykumar), Thutkawkorapin, J. (Jessada), Margolin, S. (Sara), Du, Q. (Quan), Lundin, J. (Johanna), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Lush, M. (Michael), Ambrosone, C.B. (Christine), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia N.), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Blomqvist, C. (Carl), Blot, W.J. (William), Boeckx, B. (Bram), Bojesen, S.E. (Stig), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, Q. (Qiuyin), Chang-Claude, J. (Jenny), NBCS Collaborators, (), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Deming-Halverson, S.L. (Sandra), Devilee, P. (Peter), Santos Silva, I. (Isabel) dos, Dörk, T. (Thilo), Eriksson, M. (Mats), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gabrielson, M. (Marike), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), González-Neira, A. (Anna), Guénel, P. (Pascal), Guo, Q. (Qi), Gündert, M. (Melanie), Haiman, C.A. (Christopher), Hallberg, E. (Emily), Hamann, U. (Ute), harrington, P. (Patricia), Hooning, M.J. (Maartje), Hopper, J.L. (John), Huang, G. (Guanmengqian), Jakubowska, A. (Anna), Jones, M. (Michael), Kerin, M. (Michael), Kosma, V-M. (Veli-Matti), Kristensen, V.N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lubinski, J. (Jan), Mannermaa, A. (Arto), Martens, J.W.M. (John), Meindl, A. (Alfons), Milne, R.L. (Roger), Mulligan, A.-M. (Anna-Marie), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Peto, J. (Julian), Pykäs, K. (Katri), Radice, P. (Paolo), Rhenius, V. (Valerie), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Simard, J. (Jacques), Southey, M.C. (Melissa C.), Swerdlow, A.J. (Anthony ), Truong, T. (Thérèse), Wendt, C. (Camilla), Winqvist, R. (Robert), Zheng, W. (Wei), kConFab/AOCS Investigators, (), Benítez, J. (Javier), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Czene, K. (Kamila), Hall, P. (Per), and Lindblom, A. (Annika)
Abstract: Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD > 2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderaterisk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.
Published: 2017
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19. Reproductive profiles and risk of breast cancer subtypes

Author: Brouckaert, O. (Olivier), Rudolph, A. (Anja), Laenen, A. (Annouschka), Keeman, J.N., Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Soubry, A. (Adelheid), Wildiers, H. (Hans), Andrulis, I.L. (Irene), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Blomqvist, C. (Carl), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brennan, P. (Paul), Brenner, H. (Hermann), Chenevix-Trench, G. (Georgia), Choi, J.-Y. (Ji-Yeob), Cornelissen, S. (Sten), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon S.), Czene, K. (Kamila), Eriksson, M. (Mats), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flyger, H. (Henrik), Giles, G.G. (Graham G.), González-Neira, A. (Anna), Guénel, P. (Pascal), Hall, P. (Per), Hollestelle, A. (Antoinette), Hopper, J.L. (John), Ito, H. (Hidemi), Jones, M. (Michael), Kang, D. (Daehee), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Li, J. (Jingmei), Lindblom, A. (Annika), Lilyquist, J. (Jenna), Lophatananon, A. (Artitaya), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Matsuo, K. (Keitaro), Muir, K.R. (K.), Nevanlinna, H. (Heli), Peterlongo, P. (Paolo), Pykäs, K. (Katri), Saajrang, S. (Suleeporn), Seynaeve, C.M. (Caroline), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Southey, M.C. (Melissa C.), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo Hwang), Tollenaar, R.A.E.M. (Rob), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-Chen), van den Broek, A.J. (Alexandra J.), Deurzen, C.H.M. (Carolien) van, Winqvist, R. (Robert), Wu, A.H. (Anna), Yip, C.H. (Cheng Har), Yu, J.-C. (Jyh-Cherng), Zheng, W. (Wei), Milne, R.L. (Roger), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), García-Closas, M. (Montserrat), Chang-Claude, J. (Jenny), Lambrechts, D. (Diether), Neven, P. (Patrick), Brouckaert, O. (Olivier), Rudolph, A. (Anja), Laenen, A. (Annouschka), Keeman, J.N., Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Soubry, A. (Adelheid), Wildiers, H. (Hans), Andrulis, I.L. (Irene), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Blomqvist, C. (Carl), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brennan, P. (Paul), Brenner, H. (Hermann), Chenevix-Trench, G. (Georgia), Choi, J.-Y. (Ji-Yeob), Cornelissen, S. (Sten), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon S.), Czene, K. (Kamila), Eriksson, M. (Mats), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flyger, H. (Henrik), Giles, G.G. (Graham G.), González-Neira, A. (Anna), Guénel, P. (Pascal), Hall, P. (Per), Hollestelle, A. (Antoinette), Hopper, J.L. (John), Ito, H. (Hidemi), Jones, M. (Michael), Kang, D. (Daehee), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Li, J. (Jingmei), Lindblom, A. (Annika), Lilyquist, J. (Jenna), Lophatananon, A. (Artitaya), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Matsuo, K. (Keitaro), Muir, K.R. (K.), Nevanlinna, H. (Heli), Peterlongo, P. (Paolo), Pykäs, K. (Katri), Saajrang, S. (Suleeporn), Seynaeve, C.M. (Caroline), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Southey, M.C. (Melissa C.), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo Hwang), Tollenaar, R.A.E.M. (Rob), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-Chen), van den Broek, A.J. (Alexandra J.), Deurzen, C.H.M. (Carolien) van, Winqvist, R. (Robert), Wu, A.H. (Anna), Yip, C.H. (Cheng Har), Yu, J.-C. (Jyh-Cherng), Zheng, W. (Wei), Milne, R.L. (Roger), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), García-Closas, M. (Montserrat), Chang-Claude, J. (Jenny), Lambrechts, D. (Diether), and Neven, P. (Patrick)
Abstract: __Background:__ Previous studies have shown that reproductive factors are differentially associated with breast cancer (BC) risk by subtypes. The aim of this study was to investigate associations between reproductive factors and BC subtypes, and whether these vary by age at diagnosis. __Methods:__ We used pooled data on tumor markers (estrogen and progesterone receptor, human epidermal growth factor receptor-2 (HER2)) and reproductive risk factors (parity, age at first full-time pregnancy (FFTP) and age at menarche) from 28,095 patients with invasive BC from 34 studies participating in the Breast Cancer Association Consortium (BCAC). In a case-only analysis, we used logistic regression to assess associations between reproductive factors and BC subtype compared to luminal A tumors as a reference. The interaction between age and parity in BC subtype risk was also tested, across all ages and, because age was modeled non-linearly, specifically at ages 35, 55 and 75 years. __Results:__ Parous women were more likely to be diagnosed with triple negative BC (TNBC) than with luminal A BC, irrespective of age. Parous women were also more likely to be diagnosed with luminal and non-luminal HER2-like BCs and this effect was slightly more pronounced at an early age. For instance, women diagnosed at age 35 were 1.48 more likely to have luminal HER2-like BC than luminal A BC, while this association was not significant at age 75. While age at menarche was not significantly associated with BC subtype, increasing age at FFTP was non-linearly associated with TNBC relative to luminal A BC. An age at FFTP of 25 versus 20 years lowered the risk for TNBC, but this effect was not apparent at a later FFTP. __Conclusions:__ Our main findings suggest that parity is associated with TNBC across all ages at BC diagnosis, whereas the association with luminal HER2-like BC was present only for early onset BC.
Published: 2017
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20. TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

Author: Fagerholm, R. (Rainer), Khan, S. (Sofia), Schmidt, M.K. (Marjanka), García-Closas, M. (Montserrat), Heikkilä, P. (Päivi), Saarela, J. (Jani), Beesley, J. (Jonathan), Jamshidi, M. (Maral), Aittomäki, K. (Kristiina), Liu, J. (Jianjun), Ali, H.R. (Hamid Raza), Andrulis, I.L. (Irene), Beckmann, M.W. (Matthias), Behrens, T.W. (Timothy), Blows, F.M. (Fiona M.), Brenner, H. (Hermann), Chang-Claude, J. (Jenny), Couch, F.J. (Fergus), Czene, K. (Kamila), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Floris, O.A.M., Glendon, G. (Gord), Guo, Q. (Qi), Hll, P. (Per), Hallberg, E. (Emily), Hamann, U. (Ute), Holleczek, B. (B.), Hooning, M.J. (Maartje), Hopper, J.L. (John), Jager, A. (Agnes), Kabisch, M. (Maria), Keeman, J.N., Kosma, V-M. (Veli-Matti), Lambrechts, D. (Diether), Lindblom, A. (Annika), Mannermaa, A. (Arto), Margolin, S. (Sara), Provenzano, E. (Elena), Shah, M. (Mitul), Southey, M.C. (Melissa), Dennis, J. (Joe), Lush, M. (Michael), Michailidou, K. (Kyriaki), Wang, Q. (Qin), Bolla, M.K. (Manjeet K.), Dunning, A.M. (Alison), Easton, D.F. (Douglas), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), Nevanlinna, H. (Heli), Fagerholm, R. (Rainer), Khan, S. (Sofia), Schmidt, M.K. (Marjanka), García-Closas, M. (Montserrat), Heikkilä, P. (Päivi), Saarela, J. (Jani), Beesley, J. (Jonathan), Jamshidi, M. (Maral), Aittomäki, K. (Kristiina), Liu, J. (Jianjun), Ali, H.R. (Hamid Raza), Andrulis, I.L. (Irene), Beckmann, M.W. (Matthias), Behrens, T.W. (Timothy), Blows, F.M. (Fiona M.), Brenner, H. (Hermann), Chang-Claude, J. (Jenny), Couch, F.J. (Fergus), Czene, K. (Kamila), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Floris, O.A.M., Glendon, G. (Gord), Guo, Q. (Qi), Hll, P. (Per), Hallberg, E. (Emily), Hamann, U. (Ute), Holleczek, B. (B.), Hooning, M.J. (Maartje), Hopper, J.L. (John), Jager, A. (Agnes), Kabisch, M. (Maria), Keeman, J.N., Kosma, V-M. (Veli-Matti), Lambrechts, D. (Diether), Lindblom, A. (Annika), Mannermaa, A. (Arto), Margolin, S. (Sara), Provenzano, E. (Elena), Shah, M. (Mitul), Southey, M.C. (Melissa), Dennis, J. (Joe), Lush, M. (Michael), Michailidou, K. (Kyriaki), Wang, Q. (Qin), Bolla, M.K. (Manjeet K.), Dunning, A.M. (Alison), Easton, D.F. (Douglas), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), and Nevanlinna, H. (Heli)
Abstract: TP53 overexpression is indicative of somatic TP53 mutations and associates with aggressive tumors and poor prognosis in breast cancer. We utilized a twostage SNP association study to detect variants associated with breast cancer survival in a TP53-dependent manner. Initially, a genome-wide study (n = 575 cases) was conducted to discover candidate SNPs for genotyping and validation in the Breast Cancer Association Consortium (BCAC). The SNPs were then tested for interaction with tumor TP53 status (n = 4,610) and anthracycline treatment (n = 17,828). For SNPs interacting with anthracycline treatment, siRNA knockdown experiments were carried out to validate candidate genes. In the test for interaction between SNP genotype and TP53 status, we identified one locus, represented by rs10916264 (p(interaction) = 3.44 × 10-5; FDR-adjusted p = 0.0011) in estrogen receptor (ER) positive cases. The rs10916264 AA genotype associated with worse survival among cases with ER-positive, TP53-positive tumors (hazard ratio [HR] 2.36, 95% confidence interval [C.I] 1.45-3.82). This is a cis-eQTL locus for FBXO28 and TP53BP2; expression levels of these genes were associated with patient survival specifically in ER-positive, TP53-mutated tumors. Additionally, the SNP rs798755 was associated with survival in interaction with anthracycline treatment (p(interaction) = 9.57 × 10-5, FDR-adjusted p = 0.0130). RNAi-based depletion of a predicted regulatory target gene, FAM53A, indicated that this gene can modulate doxorubicin sensitivity in breast cancer cell lines. If confirmed in independent data sets, these results may be of clinical relevance in the development of prognostic and predictive marker panels for breast cancer.
Published: 2017
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21. PHIP:a novel candidate breast cancer susceptibility locus on 6q14.1

Author: Jiao, X. (Xiang), Aravidis, C. (Christos), Marikkannu, R. (Rajeshwari), Rantala, J. (Johanna), Picelli, S. (Simone), Adamovic, T. (Tatjana), Liu, T. (Tao), Maguire, P. (Paula), Kremeyer, B. (Barbara), Luo, L. (Liping), Von Holst, S. (Susanna), Kontham, V. (Vinaykumar), Thutkawkorapin, J. (Jessada), Margolin, S. (Sara), Du, Q. (Quan), Lundin, J. (Johanna), Michailidou, K. (Kyriaki), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Lush, M. (Michael), Ambrosone, C. B. (Christine B.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Beckmann, M. W. (Matthias W.), Blomqvist, C. (Carl), Blot, W. (William), Boeckx, B. (Bram), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brand, J. S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Bruning, T. (Thomas), Burwinkel, B. (Barbara), Cai, Q. (Qiuyin), Chang-Claude, J. (Jenny), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Deming-Halverson, S. L. (Sandra L.), Devilee, P. (Peter), dos-Santos-Silva, I. (Isabel), Dork, T. (Thilo), Eriksson, M. (Mikael), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gabrielson, M. (Marike), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Guo, Q. (Qi), Gundert, M. (Melanie), Haiman, C. A. (Christopher A.), Hallberg, E. (Emily), Hamann, U. (Ute), Harrington, P. (Patricia), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Huang, G. (Guanmengqian), Jakubowska, A. (Anna), Jones, M. E. (Michael E.), Kerin, M. J. (Michael J.), Kosma, V.-M. (Veli-Matti), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lubinski, J. (Jan), Mannermaa, A. (Arto), Martens, J. W. (John W. M.), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Peto, J. (Julian), Pylkas, K. (Katri), Radice, P. (Paolo), Rhenius, V. (Valerie), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Seynaeve, C. (Caroline), Shah, M. (Mitul), Simard, J. (Jacques), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Truong, T. (Therese), Wendt, C. (Camilla), Winqvist, R. (Robert), Zheng, W. (Wei), Benitez, J. (Javier), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Czene, K. (Kamila), Hall, P. (Per), Lindblom, A. (Annika), Jiao, X. (Xiang), Aravidis, C. (Christos), Marikkannu, R. (Rajeshwari), Rantala, J. (Johanna), Picelli, S. (Simone), Adamovic, T. (Tatjana), Liu, T. (Tao), Maguire, P. (Paula), Kremeyer, B. (Barbara), Luo, L. (Liping), Von Holst, S. (Susanna), Kontham, V. (Vinaykumar), Thutkawkorapin, J. (Jessada), Margolin, S. (Sara), Du, Q. (Quan), Lundin, J. (Johanna), Michailidou, K. (Kyriaki), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Lush, M. (Michael), Ambrosone, C. B. (Christine B.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Beckmann, M. W. (Matthias W.), Blomqvist, C. (Carl), Blot, W. (William), Boeckx, B. (Bram), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Brand, J. S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Bruning, T. (Thomas), Burwinkel, B. (Barbara), Cai, Q. (Qiuyin), Chang-Claude, J. (Jenny), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Deming-Halverson, S. L. (Sandra L.), Devilee, P. (Peter), dos-Santos-Silva, I. (Isabel), Dork, T. (Thilo), Eriksson, M. (Mikael), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gabrielson, M. (Marike), Garcia-Closas, M. (Montserrat), Giles, G. G. (Graham G.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Guo, Q. (Qi), Gundert, M. (Melanie), Haiman, C. A. (Christopher A.), Hallberg, E. (Emily), Hamann, U. (Ute), Harrington, P. (Patricia), Hooning, M. J. (Maartje J.), Hopper, J. L. (John L.), Huang, G. (Guanmengqian), Jakubowska, A. (Anna), Jones, M. E. (Michael E.), Kerin, M. J. (Michael J.), Kosma, V.-M. (Veli-Matti), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lubinski, J. (Jan), Mannermaa, A. (Arto), Martens, J. W. (John W. M.), Meindl, A. (Alfons), Milne, R. L. (Roger L.), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Peto, J. (Julian), Pylkas, K. (Katri), Radice, P. (Paolo), Rhenius, V. (Valerie), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Seynaeve, C. (Caroline), Shah, M. (Mitul), Simard, J. (Jacques), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Truong, T. (Therese), Wendt, C. (Camilla), Winqvist, R. (Robert), Zheng, W. (Wei), Benitez, J. (Javier), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Czene, K. (Kamila), Hall, P. (Per), and Lindblom, A. (Annika)
Abstract: Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD >2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.
Published: 2017

22. PALB2, CHEK2 and ATM rare variants and cancer risk:data from COGS

Author: Southey, M. C. (Melissa C.), Goldgar, D. E. (David E.), Winqvist, R. (Robert), Pylkäs, K. (Katri), Couch, F. (Fergus), Tischkowitz, M. (Marc), Foulkes, W. D. (William D.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), van Rensburg, E. J. (Elizabeth J.), Heikkinen, T. (Tuomas), Nevanlinna, H. (Heli), Hopper, J. L. (John L.), Doerk, T. (Thilo), Claes, K. B. (Kathleen B. M.), Reis-Filho, J. (Jorge), Teo, Z. L. (Zhi Ling), Radice, P. (Paolo), Catucci, I. (Irene), Peterlongo, P. (Paolo), Tsimiklis, H. (Helen), Odefrey, F. A. (Fabrice A.), Dowty, J. G. (James G.), Schmidt, M. K. (Marjanka K.), Broeks, A. (Annegien), Hogervorst, F. B. (Frans B.), Verhoef, S. (Senno), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R. J. (Rodney J.), Fasching, P. A. (Peter A.), Haeberle, L. (Lothar), Ekici, A. B. (Arif B.), Beckmann, M. W. (Matthias W.), Peto, J. (Julian), dos-Santos-Silva, I. (Isabel), Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M. K. (Manjeet K.), Sawyer, E. J. (Elinor J.), Tomlinson, I. (Ian), Kerin, M. J. (Michael J.), Miller, N. (Nicola), Marme, F. (Federik), Burwinkel, B. (Barbara), Yang, R. (Rongxi), Guenel, P. (Pascal), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S. (Stig), Nielsen, S. F. (Sune F.), Flyger, H. (Henrik), Benitez, J. (Javier), Pilar Zamora, M. (M.), Arias Perez, J. I. (Jose Ignacio), Menendez, P. (Primitiva), Anton-Culver, H. (Hoda), Neuhausen, S. (Susan), Ziogas, A. (Argyrios), Clarke, C. A. (Christina A.), Brenner, H. (Hermann), Arndt, V. (Volker), Stegmaier, C. (Christa), Brauch, H. (Hiltrud), Bruening, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Muranen, T. A. (Taru A.), Aittomaki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia V.), Antonenkova, N. N. (Natalia N.), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V.-M. (Veli-Matti), Hartikainen, J. M. (Jaana M.), Spurdle, A. B. (Amanda B.), Wauters, E. (Els), Smeets, D. (Dominiek), Beuselinck, B. (Benoit), Floris, G. (Giuseppe), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Olson, J. E. (Janet E.), Vachon, C. (Celine), Pankratz, V. S. (Vernon S.), McLean, C. (Catriona), Haiman, C. A. (Christopher A.), Henderson, B. E. (Brian E.), Schumacher, F. (Fredrick), Le Marchand, L. (Loic), Kristensen, V. (Vessela), Alnaes, G. G. (Grethe Grenaker), Zheng, W. (Wei), Hunter, D. J. (David J.), Lindstrom, S. (Sara), Hankinson, S. E. (Susan E.), Kraft, P. (Peter), Andrulis, I. (Irene), Knight, J. A. (Julia A.), Glendon, G. (Gord), Mulligan, A. M. (Anna Marie), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kauppila, S. (Saila), Devilee, P. (Peter), Tollenaar, R. A. (Robert A. E. M.), Seynaeve, C. (Caroline), Hollestelle, A. (Antoinette), Garcia-Closas, M. (Montserrat), Figueroa, J. (Jonine), Chanock, S. J. (Stephen J.), Lissowska, J. (Jolanta), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Eccles, D. M. (Diana M.), Rafiq, S. (Sajjad), Tapper, W. J. (William J.), Gerty, S. M. (Sue M.), Hooning, M. J. (Maartje J.), Martens, J. W. (John W. M.), Collee, J. M. (J. Margriet), Tilanus-Linthorst, M. (Madeleine), Hall, P. (Per), Li, J. (Jingmei), Brand, J. S. (Judith S.), Humphreys, K. (Keith), Cox, A. (Angela), Reed, M. W. (Malcolm W. R.), Luccarini, C. (Craig), Baynes, C. (Caroline), Dunning, A. M. (Alison M.), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H. U. (Hans Ulrich), Ruediger, T. (Thomas), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A. E. (Amanda E.), Ambrosone, C. B. (Christine B.), Yannoukakos, D. (Drakoulis), Swerdlow, A. (Anthony), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Gonzalez-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M. (M.), Alvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D. C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Simard, J. (Jacques), Dumont, M. (Martine), Soucy, P. (Penny), Eeles, R. (Rosalind), Muir, K. (Kenneth), Wiklund, F. (Fredrik), Gronberg, H. (Henrik), Schleutker, J. (Johanna), Nordestgaard, B. G. (Borge G.), Weischer, M. (Maren), Travis, R. C. (Ruth C.), Neal, D. (David), Donovan, J. L. (Jenny L.), Hamdy, F. C. (Freddie C.), Khaw, K.-T. (Kay-Tee), Stanford, J. L. (Janet L.), Blot, W. J. (William J.), Thibodeau, S. (Stephen), Schaid, D. J. (Daniel J.), Kelley, J. L. (Joseph L.), Maier, C. (Christiane), Kibel, A. S. (Adam S.), Cybulski, C. (Cezary), Cannon-Albright, L. (Lisa), Butterbach, K. (Katja), Park, J. (Jong), Kaneva, R. (Radka), Batra, J. (Jyotsna), Teixeira, M. R. (Manuel R.), Kote-Jarai, Z. (Zsofia), Al Olama, A. A. (Ali Amin), Benlloch, S. (Sara), Renner, S. P. (Stefan P.), Hartmann, A. (Arndt), Hein, A. (Alexander), Ruebner, M. (Matthias), Lambrechts, D. (Diether), Van Nieuwenhuysen, E. (Els), Vergote, I. (Ignace), Lambretchs, S. (Sandrina), Doherty, J. A. (Jennifer A.), Rossing, M. A. (Mary Anne), Nickels, S. (Stefan), Eilber, U. (Ursula), Wang-Gohrke, S. (Shan), Odunsi, K. (Kunle), Sucheston-Campbell, L. E. (Lara E.), Friel, G. (Grace), Lurie, G. (Galina), Killeen, J. L. (Jeffrey L.), Wilkens, L. R. (Lynne R.), Goodman, M. T. (Marc T.), Runnebaum, I. (Ingo), Hillemanns, P. A. (Peter A.), Pelttari, L. M. (Liisa M.), Butzow, R. (Ralf), Modugno, F. (Francesmary), Edwards, R. P. (Robert P.), Ness, R. B. (Roberta B.), Moysich, K. B. (Kirsten B.), du Bois, A. (Andreas), Heitz, F. (Florian), Harter, P. (Philipp), Kommoss, S. (Stefan), Karlan, B. Y. (Beth Y.), Walsh, C. (Christine), Lester, J. (Jenny), Jensen, A. (Allan), Kjaer, S. K. (Susanne Kruger), Hogdall, E. (Estrid), Peissel, B. (Bernard), Bonanni, B. (Bernardo), Bernard, L. (Loris), Goode, E. L. (Ellen L.), Fridley, B. L. (Brooke L.), Vierkant, R. A. (Robert A.), Cunningham, J. M. (Julie M.), Larson, M. C. (Melissa C.), Fogarty, Z. C. (Zachary C.), Kalli, K. R. (Kimberly R.), Liang, D. (Dong), Lu, K. H. (Karen H.), Hildebrandt, M. A. (Michelle A. T.), Wu, X. (Xifeng), Levine, D. A. (Douglas A.), Dao, F. (Fanny), Bisogna, M. (Maria), Berchuck, A. (Andrew), Iversen, E. S. (Edwin S.), Marks, J. R. (Jeffrey R.), Akushevich, L. (Lucy), Cramer, D. W. (Daniel W.), Schildkraut, J. (Joellen), Terry, K. L. (Kathryn L.), Poole, E. M. (Elizabeth M.), Stampfer, M. (Meir), Tworoger, S. S. (Shelley S.), Bandera, E. V. (Elisa V.), Orlow, I. (Irene), Olson, S. H. (Sara H.), Bjorge, L. (Line), Salvesen, H. B. (Helga B.), van Altena, A. M. (Anne M.), Aben, K. K. (Katja K. H.), Kiemeney, L. A. (Lambertus A.), Massuger, L. F. (Leon F. A. G.), Pejovic, T. (Tanja), Bean, Y. (Yukie), Brooks-Wilson, A. (Angela), Kelemen, L. E. (Linda E.), Cook, L. S. (Linda S.), Le, N. D. (Nhu D.), Grski, B. (Bohdan), Gronwald, J. (Jacek), Menkiszak, J. (Janusz), Hogdall, C. K. (Claus K.), Lundvall, L. (Lene), Nedergaard, L. (Lotte), Engelholm, S. A. (Svend Aage), Dicks, E. (Ed), Tyrer, J. (Jonathan), Campbell, I. (Ian), McNeish, I. (Iain), Paul, J. (James), Siddiqui, N. (Nadeem), Glasspool, R. (Rosalind), Whittemore, A. S. (Alice S.), Rothstein, J. H. (Joseph H.), McGuire, V. (Valerie), Sieh, W. (Weiva), Cai, H. (Hui), Shu, X.-O. (Xiao-Ou), Teten, R. T. (Rachel T.), Sutphen, R. (Rebecca), McLaughlin, J. R. (John R.), Narod, S. A. (Steven A.), Phelan, C. M. (Catherine M.), Monteiro, A. N. (Alvaro N.), Fenstermacher, D. (David), Lin, H.-Y. (Hui-Yi), Permuth, J. B. (Jennifer B.), Sellers, T. A. (Thomas A.), Chen, Y. A. (Y. Ann), Tsai, Y.-Y. (Ya-Yu), Chen, Z. (Zhihua), Gentry-Maharaj, A. (Aleksandra), Gayther, S. A. (Simon A.), Ramus, S. J. (Susan J.), Menon, U. (Usha), Wu, A. H. (Anna H.), Pearce, C. L. (Celeste L.), Van den Berg, D. (David), Pike, M. C. (Malcolm C.), Dansonka-Mieszkowska, A. (Agnieszka), Plisiecka-Halasa, J. (Joanna), Moes-Sosnowska, J. (Joanna), Kupryjanczyk, J. (Jolanta), Pharoah, P. D. (Paul D. P.), Song, H. (Honglin), Winship, I. (Ingrid), Chenevix-Trench, G. (Georgia), Giles, G. G. (Graham G.), Tavtigian, S. V. (Sean V.), Easton, D. F. (Doug F.), and Milne, R. L. (Roger L.)
Subjects: skin and connective tissue diseases
Abstract: Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p = 7.1 × 10⁻⁵), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p = 6.9 × 10⁻⁸) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p = 0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p ≤ 0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p = 0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p = 0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.
Published: 2016

23. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Author: Zeng, C. (Chenjie), Guo, X. (Xingyi), Long, J. (Jirong), Kuchenbaecker, K.B. (Karoline), Droit, A. (Arnaud), Michailidou, K. (Kyriaki), Ghoussaini, M. (Maya), Kar, S. (Siddhartha), Freeman, A. (Adam), Hopper, J.L. (John), Milne, R.L. (Roger), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Agata, S. (Simona), Ahmed, S. (Shahana), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia N.), Arason, A. (Adalgeir), Arndt, V. (Volker), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Bacot, F. (Francois), Barrowdale, D. (Daniel), Baynes, C. (Caroline), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brennan, P. (Paul), Brenner, H. (Hermann), Broeks, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Buys, S.S. (Saundra), Cai, Q. (Qiuyin), Caldes, T. (Trinidad), Campbell, I. (Ian), Carpenter, T.A. (Adrian), Chang-Claude, J. (Jenny), Choi, J.-Y. (Ji-Yeob), Claes, K.B.M. (Kathleen B.M.), Clarke, C. (Christine), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Daly, M.B. (Mary B.), Hoya, M. (Miguel) de La, De Leeneer, K. (Kim), Devilee, P. (Peter), Díez, O. (Orland), Domchek, S.M. (Susan), Doody, M. (Michele), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Dumont, M. (Martine), Dwek, M. (Miriam), Dworniczak, B. (Bernd), Egan, K.M. (Kathleen), Eilber, U. (Ursula), Einbeigi, Z. (Zakaria), Ejlertsen, B. (Bent), Ellis, S.D. (Steve), Frost, D. (Debra), Lalloo, F. (Fiona), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flyger, H. (Henrik), Friedlander, M. (Michael), Friedman, E. (Eitan), Gambino, G. (Gaetana), Gao, Y.-T. (Yu-Tang), Garber, J. (Judy), García-Closas, M. (Montserrat), Gehrig, P.A. (Paola A.), Damiola, F. (Francesca), Lesueur, F. (Fabienne), Mazoyer, S. (Sylvie), Stoppa-Lyonnet, D. (Dominique), Giles, G.G. (Graham G.), Godwin, A.K. (Andrew K.), Goldgar, D. (David), González-Neira, A. (Anna), Greene, M.H. (Mark H.), Guénel, P. (Pascal), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hallberg, E. (Emily), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Hart, S. (Stewart), Hartikainen, J.M. (J.), Hartman, J.M. (Joost), Hassan, N. (Norhashimah), Healey, S. (Sue), Hogervorst, F.B.L. (Frans), Verhoef, S., Hendricks, C.B. (Carolyn B.), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hulick, P.J. (Peter), Hunter, D. (David), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Ito, H. (Hidemi), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska-Bieniek, K. (Katarzyna), Jensen, U.B., John, E.M. (Esther), Joly Beauparlant, C. (Charles), Jones, M. (Michael), Kabisch, M. (Maria), Kang, D. (Daehee), Karlan, B.Y. (Beth Y.), Kauppila, S. (Saila), Kerin, M. (Michael), Khan, S. (Sofia), Khusnutdinova, E.K. (Elza), Knight, J.A. (Julia), Konstantopoulou, I. (I.), Kraft, P. (Peter), Kwong, A. (Ava), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lázaro, C. (Conxi), Le Marchand, L. (Loic), Lee, C.N. (Chuen), Lee, M.H. (Min Hyuk), Lester, K.J. (Kathryn), Li, J. (Jingmei), Liljegren, A. (Annelie), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Frederik), Matsuo, K. (Keitaro), McGuffog, L. (Lesley), Meindl, A. (Alfons), Menegaux, F. (Florence), Montagna, M. (Marco), Muir, K.R. (K.), Mulligan, A.-M. (Anna-Marie), Nathanson, K.L. (Katherine), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Newcomb, P. (Polly), Nord, S. (Silje), Nussbaum, R.L. (Robert L.), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olswold, C. (Curtis), Osorio, A. (Ana), Papi, L. (Laura), Park-Simon, T.-W., Paulsson-Karlsson, Y. (Ylva), Peeters, S.T.H. (Stephanie), Peissel, B. (Bernard), Peterlongo, P. (Paolo), Peto, J. (Julian), Pfeiler, G. (Georg), Phelan, C. (Catherine), Presneau, N. (Nadege), Radice, P. (Paolo), Rahman, N. (Nazneen), Ramus, S.J. (Susan), Rashid, M.U. (Muhammad), Rennert, G. (Gad), Rhiem, K. (Kerstin), Rudolph, A. (Anja), Salani, R. (Ritu), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schoemaker, M. (Minouk), Schürmann, P. (Peter), Seynaeve, C.M. (Caroline), Shen, C.-Y. (Chen-Yang), Shrubsole, M. (Martha), Shu, X.-O. (Xiao-Ou), Sigurdson, A.J. (Alice), Singer, C.F. (Christian), Slager, S. (Susan), Soucy, P. (Penny), Southey, M.C. (Melissa), Steinemann, D. (Doris), Swerdlow, A.J. (Anthony ), Szabo, C. (Csilla), Tchatchou, S. (Sandrine), Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, M.B. (Mary Beth), Tessier, D.C. (Daniel C.), Teulé, A. (A.), Thomassen, M. (Mads), Tihomirova, L. (Laima), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tung, N. (Nadine), Turnbull, C. (Clare), Ouweland, A.M.W. (Ans) van den, Rensburg, E.J. (Elizabeth) van, ven den Berg, D. (David), Vijai, J. (Joseph), Wang-Gohrke, S. (Shan), Weitzel, J.N. (Jeffrey), Whittemore, A.S. (Alice), Winqvist, R. (Robert), Wong, T.Y. (Tien Y.), Wu, A.H. (Anna), Yannoukakos, D. (Drakoulis), Yu, J-C. (Jyh-Cherng), Pharoah, P.D.P. (Paul), Hall, P. (Per), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Simard, J. (Jacques), Couch, F.J. (Fergus), Antoniou, A.C. (Antonis), Easton, D.F. (Douglas F.), Zheng, W. (Wei), Zeng, C. (Chenjie), Guo, X. (Xingyi), Long, J. (Jirong), Kuchenbaecker, K.B. (Karoline), Droit, A. (Arnaud), Michailidou, K. (Kyriaki), Ghoussaini, M. (Maya), Kar, S. (Siddhartha), Freeman, A. (Adam), Hopper, J.L. (John), Milne, R.L. (Roger), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Agata, S. (Simona), Ahmed, S. (Shahana), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia N.), Arason, A. (Adalgeir), Arndt, V. (Volker), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Bacot, F. (Francois), Barrowdale, D. (Daniel), Baynes, C. (Caroline), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brennan, P. (Paul), Brenner, H. (Hermann), Broeks, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Buys, S.S. (Saundra), Cai, Q. (Qiuyin), Caldes, T. (Trinidad), Campbell, I. (Ian), Carpenter, T.A. (Adrian), Chang-Claude, J. (Jenny), Choi, J.-Y. (Ji-Yeob), Claes, K.B.M. (Kathleen B.M.), Clarke, C. (Christine), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Daly, M.B. (Mary B.), Hoya, M. (Miguel) de La, De Leeneer, K. (Kim), Devilee, P. (Peter), Díez, O. (Orland), Domchek, S.M. (Susan), Doody, M. (Michele), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Dumont, M. (Martine), Dwek, M. (Miriam), Dworniczak, B. (Bernd), Egan, K.M. (Kathleen), Eilber, U. (Ursula), Einbeigi, Z. (Zakaria), Ejlertsen, B. (Bent), Ellis, S.D. (Steve), Frost, D. (Debra), Lalloo, F. (Fiona), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flyger, H. (Henrik), Friedlander, M. (Michael), Friedman, E. (Eitan), Gambino, G. (Gaetana), Gao, Y.-T. (Yu-Tang), Garber, J. (Judy), García-Closas, M. (Montserrat), Gehrig, P.A. (Paola A.), Damiola, F. (Francesca), Lesueur, F. (Fabienne), Mazoyer, S. (Sylvie), Stoppa-Lyonnet, D. (Dominique), Giles, G.G. (Graham G.), Godwin, A.K. (Andrew K.), Goldgar, D. (David), González-Neira, A. (Anna), Greene, M.H. (Mark H.), Guénel, P. (Pascal), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hallberg, E. (Emily), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Hart, S. (Stewart), Hartikainen, J.M. (J.), Hartman, J.M. (Joost), Hassan, N. (Norhashimah), Healey, S. (Sue), Hogervorst, F.B.L. (Frans), Verhoef, S., Hendricks, C.B. (Carolyn B.), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hulick, P.J. (Peter), Hunter, D. (David), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Ito, H. (Hidemi), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska-Bieniek, K. (Katarzyna), Jensen, U.B., John, E.M. (Esther), Joly Beauparlant, C. (Charles), Jones, M. (Michael), Kabisch, M. (Maria), Kang, D. (Daehee), Karlan, B.Y. (Beth Y.), Kauppila, S. (Saila), Kerin, M. (Michael), Khan, S. (Sofia), Khusnutdinova, E.K. (Elza), Knight, J.A. (Julia), Konstantopoulou, I. (I.), Kraft, P. (Peter), Kwong, A. (Ava), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lázaro, C. (Conxi), Le Marchand, L. (Loic), Lee, C.N. (Chuen), Lee, M.H. (Min Hyuk), Lester, K.J. (Kathryn), Li, J. (Jingmei), Liljegren, A. (Annelie), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Frederik), Matsuo, K. (Keitaro), McGuffog, L. (Lesley), Meindl, A. (Alfons), Menegaux, F. (Florence), Montagna, M. (Marco), Muir, K.R. (K.), Mulligan, A.-M. (Anna-Marie), Nathanson, K.L. (Katherine), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Newcomb, P. (Polly), Nord, S. (Silje), Nussbaum, R.L. (Robert L.), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olswold, C. (Curtis), Osorio, A. (Ana), Papi, L. (Laura), Park-Simon, T.-W., Paulsson-Karlsson, Y. (Ylva), Peeters, S.T.H. (Stephanie), Peissel, B. (Bernard), Peterlongo, P. (Paolo), Peto, J. (Julian), Pfeiler, G. (Georg), Phelan, C. (Catherine), Presneau, N. (Nadege), Radice, P. (Paolo), Rahman, N. (Nazneen), Ramus, S.J. (Susan), Rashid, M.U. (Muhammad), Rennert, G. (Gad), Rhiem, K. (Kerstin), Rudolph, A. (Anja), Salani, R. (Ritu), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schoemaker, M. (Minouk), Schürmann, P. (Peter), Seynaeve, C.M. (Caroline), Shen, C.-Y. (Chen-Yang), Shrubsole, M. (Martha), Shu, X.-O. (Xiao-Ou), Sigurdson, A.J. (Alice), Singer, C.F. (Christian), Slager, S. (Susan), Soucy, P. (Penny), Southey, M.C. (Melissa), Steinemann, D. (Doris), Swerdlow, A.J. (Anthony ), Szabo, C. (Csilla), Tchatchou, S. (Sandrine), Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, M.B. (Mary Beth), Tessier, D.C. (Daniel C.), Teulé, A. (A.), Thomassen, M. (Mads), Tihomirova, L. (Laima), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tung, N. (Nadine), Turnbull, C. (Clare), Ouweland, A.M.W. (Ans) van den, Rensburg, E.J. (Elizabeth) van, ven den Berg, D. (David), Vijai, J. (Joseph), Wang-Gohrke, S. (Shan), Weitzel, J.N. (Jeffrey), Whittemore, A.S. (Alice), Winqvist, R. (Robert), Wong, T.Y. (Tien Y.), Wu, A.H. (Anna), Yannoukakos, D. (Drakoulis), Yu, J-C. (Jyh-Cherng), Pharoah, P.D.P. (Paul), Hall, P. (Per), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Simard, J. (Jacques), Couch, F.J. (Fergus), Antoniou, A.C. (Antonis), Easton, D.F. (Douglas F.), and Zheng, W. (Wei)
Abstract: Background: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/ ), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. Results: Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 × 10-9), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 × 10-5), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 × 10-4) identified in the general populations, and rs113824616 (P = 7 × 10-5) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05. Conclusion: This study id
Published: 2016
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24. Age-And tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC Carriers

Author: Schmidt, M.K. (Marjanka), Hogervorst, F.B.L. (Frans), Hien, R.R. (Richard) van, Cornelissen, S. (Sten), Broeks, A. (Annegien), Adank, M.A. (Muriel), Meijers, H. (Hanne), Waisfisz, Q. (Quinten), Hollestelle, A. (Antoinette), Schutte, A.E.M. (Mieke), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia N.), Antoniou, A.C. (Antonis), Arndt, V. (Volker), Bermisheva, M. (Marina), Bogdanova, N.V. (Natalia), Bolla, M.K. (Manjeet K.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Dunning, A.M. (Alison), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Galle, E. (Eva), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Haeberle, L. (Lothar), Hall, P. (Per), Hillemanns, P. (Peter), Hopper, J.L. (John), Jakubowska, A. (Anna), John, E.M. (Esther), Jones, M. (Michael), Khusnutdinova, E.K. (Elza), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Lee, A. (Andrew), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Margolin, S. (Sara), Meindl, A. (Alfons), Milne, R.L. (Roger), Muranen, T.A. (Taru A.), Newcomb, P.A. (Polly A.), Offit, K. (Kenneth), Park-Simon, T.-W., Peto, J. (Julian), Pharoah, P.D.P. (Paul), Robson, M. (Mark), Rudolph, A. (Anja), Sawyer, E.J. (Elinor), Schmutzler, R.K. (Rita), Seynaeve, C.M. (Caroline), Soens, J. (Julie), Southey, M.C. (Melissa), Spurdle, A.B. (Amanda), Surowy, H. (Harald), Swerdlow, A.J. (Anthony ), Tollenaar, R.A.E.M. (Rob A.E.M.), Tomlinson, I.P. (Ian), Trentham-Dietz, A. (Amy), Vachon, C. (Celine), Wang, Q. (Qin), Whittemore, A.S. (Alice), Ziogas, A. (Argyrios), Kolk, L.E. (Lizet) van der, Nevanlinna, H. (Heli), Dörk, T. (Thilo), Bojesen, S.E. (Stig), Easton, D.F. (Douglas F.), Schmidt, M.K. (Marjanka), Hogervorst, F.B.L. (Frans), Hien, R.R. (Richard) van, Cornelissen, S. (Sten), Broeks, A. (Annegien), Adank, M.A. (Muriel), Meijers, H. (Hanne), Waisfisz, Q. (Quinten), Hollestelle, A. (Antoinette), Schutte, A.E.M. (Mieke), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia N.), Antoniou, A.C. (Antonis), Arndt, V. (Volker), Bermisheva, M. (Marina), Bogdanova, N.V. (Natalia), Bolla, M.K. (Manjeet K.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Dunning, A.M. (Alison), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Galle, E. (Eva), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Haeberle, L. (Lothar), Hall, P. (Per), Hillemanns, P. (Peter), Hopper, J.L. (John), Jakubowska, A. (Anna), John, E.M. (Esther), Jones, M. (Michael), Khusnutdinova, E.K. (Elza), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Lee, A. (Andrew), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Margolin, S. (Sara), Meindl, A. (Alfons), Milne, R.L. (Roger), Muranen, T.A. (Taru A.), Newcomb, P.A. (Polly A.), Offit, K. (Kenneth), Park-Simon, T.-W., Peto, J. (Julian), Pharoah, P.D.P. (Paul), Robson, M. (Mark), Rudolph, A. (Anja), Sawyer, E.J. (Elinor), Schmutzler, R.K. (Rita), Seynaeve, C.M. (Caroline), Soens, J. (Julie), Southey, M.C. (Melissa), Spurdle, A.B. (Amanda), Surowy, H. (Harald), Swerdlow, A.J. (Anthony ), Tollenaar, R.A.E.M. (Rob A.E.M.), Tomlinson, I.P. (Ian), Trentham-Dietz, A. (Amy), Vachon, C. (Celine), Wang, Q. (Qin), Whittemore, A.S. (Alice), Ziogas, A. (Argyrios), Kolk, L.E. (Lizet) van der, Nevanlinna, H. (Heli), Dörk, T. (Thilo), Bojesen, S.E. (Stig), and Easton, D.F. (Douglas F.)
Abstract: Purpose CHEK2∗1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtypeand age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2∗1100delC. Patients and Methods CHEK2∗1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2∗1100delC carriers versus noncarriers were
Published: 2016
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25. Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21

Author: Hamdi, Y. (Yosr), Soucy, P. (Penny), Adoue, V. (Véronique), Michailidou, K. (Kyriaki), Canisius, S. (Sander), Lemaçon, A. (Audrey), Droit, A. (Arnaud), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Baynes, C. (Caroline), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Dennis, J. (Joe), Devilee, P. (Peter), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Eriksson, M. (Mats), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flyger, H. (Henrik), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Goldberg, M.S. (Mark), González-Neira, A. (Anna), Grenaker Alnæs, G. (Grethe), Guénel, P. (Pascal), Haeberle, L. (Lothar), Haiman, C.A. (Christopher), Hamann, U. (Ute), Hallberg, E. (Emily), Hooning, M.J. (Maartje), Hopper, J.L. (John), Jakubowska, A. (Anna), Jones, M. (Michael), Kabisch, M. (Maria), Kataja, V. (Vesa), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Maranian, M. (Melanie), Margolin, S. (Sara), Marme, F. (Frederik), Milne, R.L. (Roger), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Olswold, C. (Curtis), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Pykäs, K. (Katri), Radice, P. (Paolo), Rudolph, A. (Anja), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Shu, X.-O. (Xiao-Ou), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Vachon, C. (Celine), Ouweland, A.M.W. (Ans) van den, Wang, Q. (Qin), Winqvist, R. (Robert), Zheng, W. (Wei), Benítez, J. (Javier), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Kristensen, V. (Vessela), Hall, P. (Per), Easton, D.F. (Douglas), Pastinen, T. (Tomi), Nord, S. (Silje), Simard, J. (Jacques), Hamdi, Y. (Yosr), Soucy, P. (Penny), Adoue, V. (Véronique), Michailidou, K. (Kyriaki), Canisius, S. (Sander), Lemaçon, A. (Audrey), Droit, A. (Arnaud), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Baynes, C. (Caroline), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Broeks, A. (Annegien), Burwinkel, B. (Barbara), Chang-Claude, J. (Jenny), Couch, F.J. (Fergus J.), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Dennis, J. (Joe), Devilee, P. (Peter), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Eriksson, M. (Mats), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flyger, H. (Henrik), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Goldberg, M.S. (Mark), González-Neira, A. (Anna), Grenaker Alnæs, G. (Grethe), Guénel, P. (Pascal), Haeberle, L. (Lothar), Haiman, C.A. (Christopher), Hamann, U. (Ute), Hallberg, E. (Emily), Hooning, M.J. (Maartje), Hopper, J.L. (John), Jakubowska, A. (Anna), Jones, M. (Michael), Kabisch, M. (Maria), Kataja, V. (Vesa), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lindblom, A. (Annika), Lubinski, J. (Jan), Mannermaa, A. (Arto), Maranian, M. (Melanie), Margolin, S. (Sara), Marme, F. (Frederik), Milne, R.L. (Roger), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Olswold, C. (Curtis), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Pykäs, K. (Katri), Radice, P. (Paolo), Rudolph, A. (Anja), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Shu, X.-O. (Xiao-Ou), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Vachon, C. (Celine), Ouweland, A.M.W. (Ans) van den, Wang, Q. (Qin), Winqvist, R. (Robert), Zheng, W. (Wei), Benítez, J. (Javier), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Kristensen, V. (Vessela), Hall, P. (Per), Easton, D.F. (Douglas), Pastinen, T. (Tomi), Nord, S. (Silje), and Simard, J. (Jacques)
Abstract: There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms. Thereafter, using data from a genome-wide map of allelic expression associated SNPs, 313 genetic variants were selected and their association with breast cancer risk was then evaluated in 46,451 breast cancer cases and 42,599 controls of European ancestry ascertained from 41 studies participating in the Breast Cancer Association Consortium. The associations were evaluated with overall breast cancer risk and with estrogen receptor negative and positive disease. One novel breast cancer susceptibility locus on 4q21 (rs11099601) was identified (OR = 1.05, P = 5.6x10-6). rs11099601 lies in a 135 kb linkage disequilib
Published: 2016
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26. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Author: Lawrenson, K. (Kate), Kar, S. (Siddhartha), McCue, K. (Karen), Kuchenbaeker, K. (Karoline), Michailidou, K. (Kyriaki), Tyrer, J.P. (Jonathan), Beesley, J. (Jonathan), Ramus, S.J. (Susan), Li, Q. (Qiyuan), Delgado, M.K. (Melissa K.), Lee, J.M. (Janet M.), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Bandera, E.V. (Elisa), Barile, M. (Monica), Barkardottir, R.B. (Rosa B.), Barrowdale, D. (Daniel), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berchuck, A. (Andrew), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brennan, P. (Paul), Brenner, H. (Hermann), Bruinsma, F. (Fiona), Brunet, J. (Joan), Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra), Cai, Q. (Qiuyin), Caldes, T. (Trinidad), Campbell, I. (Ian), Canniotto, R. (Rikki), Chang-Claude, J. (Jenny), Chiquette, J. (Jocelyne), Choi, J.-Y. (Ji-Yeob), Claes, K.B.M. (Kathleen B.M.), Cook, L.S. (Linda S.), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M.B. (Mary B.), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Dennis, J. (Joe), Devilee, P. (Peter), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Dumont, M. (Martine), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ellis, S.D. (Steve), Engel, C. (Christoph), Lee, E. (Eunjung), Evans, D.G. (D. Gareth), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Foretova, L. (Lenka), Fostira, F. (Florentia), Foulkes, W.D. (William), Fridley, B.L. (Brooke), Friedman, E. (Eitan), Frost, D. (Debra), Gambino, G. (Gaetana), Ganz, P.A. (Patricia A.), Garber, J. (Judy), García-Closas, M. (Montserrat), Gentry-Maharaj, A. (Aleksandra), Ghoussaini, M. (Maya), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D. (David), González-Neira, A. (Anna), Goode, E.L. (Ellen), Goodman, M.T. (Marc), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hall, P. (Per), Hallberg, E. (Emily), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), harrington, P. (Patricia), Hartman, J.M. (Joost), Hassan, N. (Norhashimah), Healey, S. (Sue), Heitz, P.U., Herzog, J. (Josef), Høgdall, E. (Estrid), Høgdall, C.K. (Claus), Hogervorst, F.B.L. (Frans), Hollestelle, A. (Antoinette), Hopper, J.L. (John), Hulick, P.J. (Peter), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Ito, H. (Hidemi), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jensen, A. (Allan), John, E.M. (Esther), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Kapuscinski, M.K. (Miroslav K.), Karlan, B.Y. (Beth Y.), Khan, S. (Sofia), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Kupryjanczyk, J. (Jolanta), Kwong, A. (Ava), Hoya, M. (Miguel) de La, Laitman, Y. (Yael), Lambrechts, D. (Diether), Le, N.D. (Nhu D.), De Leeneer, K. (Kim), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Lindblom, A. (Annika), Long, J. (Jirong), Lophatananon, A. (Artitaya), Loud, J.T. (Jennifer), Lu, K.H. (Karen), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Le Marchand, L. (Loic), Margolin, S. (Sara), Marme, F. (Frederick), Massuger, L.F. (Leon), Matsuo, K. (Keitaro), Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menon, U. (Usha), Mensenkamp, A.R. (Arjen R.), Milne, R.L. (Roger), Montagna, M. (Marco), Moysich, K.B. (Kirsten), Muir, K.R. (K.), Mulligan, A.-M. (Anna-Marie), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Nussbaum, R.L. (Robert L.), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olswold, C. (Curtis), O'Malley, D.M. (David M.), Orlow, I. (Irene), Orr, N. (Nick), Osorio, A. (Ana), Park, S.K. (Sue Kyung), Pearce, C.L. (Celeste), Pejovic, T. (Tanja), Peterlongo, P. (Paolo), Pfeiler, G. (Georg), Phelan, C. (Catherine), Poole, E.M. (Elizabeth), Pykäs, K. (Katri), Radice, P. (Paolo), Rantala, J. (Johanna), Rashid, M.U. (Muhammad), Rennert, G. (Gad), Rhenius, V. (Valerie), Rhiem, K. (Kerstin), Risch, H. (Harvey), Rodriguez, G.C. (Gustavo), Rossing, M.A. (Mary Anne), Rudolph, A. (Anja), Salvesen, H.B. (Helga), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor J.), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Sellers, T.A. (Thomas A.), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Sieh, W. (Weiva), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Slager, S. (Susan), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stenmark-Askmalm, M. (Marie), Stoppa-Lyonnet, D. (Dominique), Sutter, C. (Christian), Swerdlow, A.J. (Anthony ), Tchatchou, S. (Sandrine), Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Tibiletti, M.G. (Maria Grazia), Tihomirova, L. (Laima), Tognazzo, S. (Silvia), Toland, A.E. (Amanda), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-Chen), Tung, N. (Nadine), Tworoger, S.S. (Shelley S.), Vachon, C. (Celine), Van Den Ouweland, A.M.W. (Ans M.W.), Van Doorn, H.C. (Helena C.), Rensburg, E.J. (Elizabeth) van, Veer, L.J. (Laura) van 't, Vanderstichele, A. (Adriaan), Vergote, I. (Ignace), Vijai, J. (Joseph), Wang, Q. (Qin), Wang-Gohrke, S. (Shan), Weitzel, J.N. (Jeffrey), Wentzensen, N. (N.), Whittemore, A.S. (Alice), Wildiers, H. (Hans), Winqvist, R. (Robert), Wu, A.H. (Anna), Yannoukakos, D. (Drakoulis), Yoon, S.-Y. (Sook-Yee), Yu, J-C. (Jyh-Cherng), Zheng, W. (Wei), Zheng, Y. (Ying), Khanna, K.K. (Kum Kum), Simard, J. (Jacques), Monteiro, A.N.A. (Alvaro N.), French, J.D. (Juliet), Couch, F.J. (Fergus), Freedman, M. (Matthew), Easton, D.F. (Douglas F.), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Edwards, S.L. (Stacey), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Gayther, S.A. (Simon), Bowtell, D. (David), DeFazio, A. (Anna), Webb, P. (Penny), Collonge-Rame, M.-A., Damette, A. (Alexandre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Berthet, P. (Pascaline), Vaur, D. (Dominique), Castera, L. (Laurent), Ferrer, S.F., Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Coron, F. (Fanny), Faivre, L. (Laurence), Baurand, A. (Amandine), Jacquot, C. (Caroline), Bertolone, G. (Geoffrey), Lizard, S. (Sarab), Leroux, D. (Dominique), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Adenis, C. (Claude), Vénat-Bouvet, L. (Laurence), Léone, M. (Mélanie), Boutry-Kryza, N. (N.), Calender, A. (Alain), Giraud, S. (Sophie), Verny-Pierre, C. (Carole), Lasset, C. (Christine), Bonadona, V. (Valérie), Barjhoux, L. (Laure), Sobol, H. (Hagay), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Coupier, I. (Isabelle), Pujol, P. (Pascal), Sokolowska, J. (Johanna), Bronner, M. (Myriam), Delnatte, C.D. (Capucine), Bézieau, S. (Stéphane), Mari, V. (Véronique), Gauthier-Villars, M. (Marion), Buecher, B. (Bruno), Rouleau, E. (Etienne), Golmard, L. (Lisa), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Pauw, A. (Antoine) de, Elan, C. (Camille), Fourme, E. (Emmanuelle), Birot, A.-M. (Anne-Marie), Saule, C. (Claire), Laurent, M. (Maïté), Houdayer, C. (Claude), Lesueur, F. (Fabienne), Mebirouk, N. (Noura), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Warcoin, M. (Mathilde), Prieur, F. (Fabienne), Lebrun, M. (Marine), Kientz, C. (Caroline), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Mortemousque, I. (Isabelle), Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Guillaud-Bataille, M. (Marine), Gregory, H. (Helen), Miedzybrodzka, Z. (Zosia), Morrison, P.J. (Patrick), Donaldson, A. (Alan), Rogers, M.T. (Mark), Kennedy, M.J. (John), Porteous, M.E. (Mary), Brady, A. (A.), Barwell, J. (Julian), Foo, C. (Claire), Lalloo, F. (Fiona), Side, L. (Lucy), Eason, J. (Jacqueline), Henderson, A. (Alex), Walker, L.J. (Lisa), Cook, J. (Jackie), Snape, K. (Katie), Murray, A. (Alexandra), McCann, E. (Emma), Rookus, M.A. (Matti), Leeuwen, F.E. (Flora) van, Kolk, L.E. (Lizet) van der, Russell, N.S. (Nicola), Lange, J.L. (J.) de, Wijnands, R., Collée, J.M. (Margriet), Hooning, M.J. (Maartje), Seynaeve, C., Deurzen, C.H.M. (Carolien) van, Obdeijn, A.I.M. (Inge-Marie), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Ausems, M.G.E.M. (Margreet), Pol, C. (Carmen) van der, Os, T.A.M. (Theo) van, Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gómez García, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Vasen, H. (Hans), Siesling, S., Verloop, J., Overbeek, L.I.H. (Lucy), Fox, S.B. (Stephen), Kirk, J. (Judy), Lindeman, G.J. (Geoffrey), Price, M. (Melanie), Lawrenson, K. (Kate), Kar, S. (Siddhartha), McCue, K. (Karen), Kuchenbaeker, K. (Karoline), Michailidou, K. (Kyriaki), Tyrer, J.P. (Jonathan), Beesley, J. (Jonathan), Ramus, S.J. (Susan), Li, Q. (Qiyuan), Delgado, M.K. (Melissa K.), Lee, J.M. (Janet M.), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Bandera, E.V. (Elisa), Barile, M. (Monica), Barkardottir, R.B. (Rosa B.), Barrowdale, D. (Daniel), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berchuck, A. (Andrew), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet K.), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brennan, P. (Paul), Brenner, H. (Hermann), Bruinsma, F. (Fiona), Brunet, J. (Joan), Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra), Cai, Q. (Qiuyin), Caldes, T. (Trinidad), Campbell, I. (Ian), Canniotto, R. (Rikki), Chang-Claude, J. (Jenny), Chiquette, J. (Jocelyne), Choi, J.-Y. (Ji-Yeob), Claes, K.B.M. (Kathleen B.M.), Cook, L.S. (Linda S.), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cybulski, C. (Cezary), Czene, K. (Kamila), Daly, M.B. (Mary B.), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Dennis, J. (Joe), Devilee, P. (Peter), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Dumont, M. (Martine), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ellis, S.D. (Steve), Engel, C. (Christoph), Lee, E. (Eunjung), Evans, D.G. (D. Gareth), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Foretova, L. (Lenka), Fostira, F. (Florentia), Foulkes, W.D. (William), Fridley, B.L. (Brooke), Friedman, E. (Eitan), Frost, D. (Debra), Gambino, G. (Gaetana), Ganz, P.A. (Patricia A.), Garber, J. (Judy), García-Closas, M. (Montserrat), Gentry-Maharaj, A. (Aleksandra), Ghoussaini, M. (Maya), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D. (David), González-Neira, A. (Anna), Goode, E.L. (Ellen), Goodman, M.T. (Marc), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hall, P. (Per), Hallberg, E. (Emily), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), harrington, P. (Patricia), Hartman, J.M. (Joost), Hassan, N. (Norhashimah), Healey, S. (Sue), Heitz, P.U., Herzog, J. (Josef), Høgdall, E. (Estrid), Høgdall, C.K. (Claus), Hogervorst, F.B.L. (Frans), Hollestelle, A. (Antoinette), Hopper, J.L. (John), Hulick, P.J. (Peter), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Ito, H. (Hidemi), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jensen, A. (Allan), John, E.M. (Esther), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Kapuscinski, M.K. (Miroslav K.), Karlan, B.Y. (Beth Y.), Khan, S. (Sofia), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Kupryjanczyk, J. (Jolanta), Kwong, A. (Ava), Hoya, M. (Miguel) de La, Laitman, Y. (Yael), Lambrechts, D. (Diether), Le, N.D. (Nhu D.), De Leeneer, K. (Kim), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Lindblom, A. (Annika), Long, J. (Jirong), Lophatananon, A. (Artitaya), Loud, J.T. (Jennifer), Lu, K.H. (Karen), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Le Marchand, L. (Loic), Margolin, S. (Sara), Marme, F. (Frederick), Massuger, L.F. (Leon), Matsuo, K. (Keitaro), Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menon, U. (Usha), Mensenkamp, A.R. (Arjen R.), Milne, R.L. (Roger), Montagna, M. (Marco), Moysich, K.B. (Kirsten), Muir, K.R. (K.), Mulligan, A.-M. (Anna-Marie), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Nussbaum, R.L. (Robert L.), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olswold, C. (Curtis), O'Malley, D.M. (David M.), Orlow, I. (Irene), Orr, N. (Nick), Osorio, A. (Ana), Park, S.K. (Sue Kyung), Pearce, C.L. (Celeste), Pejovic, T. (Tanja), Peterlongo, P. (Paolo), Pfeiler, G. (Georg), Phelan, C. (Catherine), Poole, E.M. (Elizabeth), Pykäs, K. (Katri), Radice, P. (Paolo), Rantala, J. (Johanna), Rashid, M.U. (Muhammad), Rennert, G. (Gad), Rhenius, V. (Valerie), Rhiem, K. (Kerstin), Risch, H. (Harvey), Rodriguez, G.C. (Gustavo), Rossing, M.A. (Mary Anne), Rudolph, A. (Anja), Salvesen, H.B. (Helga), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor J.), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Sellers, T.A. (Thomas A.), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Sieh, W. (Weiva), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Slager, S. (Susan), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stenmark-Askmalm, M. (Marie), Stoppa-Lyonnet, D. (Dominique), Sutter, C. (Christian), Swerdlow, A.J. (Anthony ), Tchatchou, S. (Sandrine), Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Tibiletti, M.G. (Maria Grazia), Tihomirova, L. (Laima), Tognazzo, S. (Silvia), Toland, A.E. (Amanda), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-Chen), Tung, N. (Nadine), Tworoger, S.S. (Shelley S.), Vachon, C. (Celine), Van Den Ouweland, A.M.W. (Ans M.W.), Van Doorn, H.C. (Helena C.), Rensburg, E.J. (Elizabeth) van, Veer, L.J. (Laura) van 't, Vanderstichele, A. (Adriaan), Vergote, I. (Ignace), Vijai, J. (Joseph), Wang, Q. (Qin), Wang-Gohrke, S. (Shan), Weitzel, J.N. (Jeffrey), Wentzensen, N. (N.), Whittemore, A.S. (Alice), Wildiers, H. (Hans), Winqvist, R. (Robert), Wu, A.H. (Anna), Yannoukakos, D. (Drakoulis), Yoon, S.-Y. (Sook-Yee), Yu, J-C. (Jyh-Cherng), Zheng, W. (Wei), Zheng, Y. (Ying), Khanna, K.K. (Kum Kum), Simard, J. (Jacques), Monteiro, A.N.A. (Alvaro N.), French, J.D. (Juliet), Couch, F.J. (Fergus), Freedman, M. (Matthew), Easton, D.F. (Douglas F.), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Edwards, S.L. (Stacey), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Gayther, S.A. (Simon), Bowtell, D. (David), DeFazio, A. (Anna), Webb, P. (Penny), Collonge-Rame, M.-A., Damette, A. (Alexandre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Berthet, P. (Pascaline), Vaur, D. (Dominique), Castera, L. (Laurent), Ferrer, S.F., Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Coron, F. (Fanny), Faivre, L. (Laurence), Baurand, A. (Amandine), Jacquot, C. (Caroline), Bertolone, G. (Geoffrey), Lizard, S. (Sarab), Leroux, D. (Dominique), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Adenis, C. (Claude), Vénat-Bouvet, L. (Laurence), Léone, M. (Mélanie), Boutry-Kryza, N. (N.), Calender, A. (Alain), Giraud, S. (Sophie), Verny-Pierre, C. (Carole), Lasset, C. (Christine), Bonadona, V. (Valérie), Barjhoux, L. (Laure), Sobol, H. (Hagay), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Coupier, I. (Isabelle), Pujol, P. (Pascal), Sokolowska, J. (Johanna), Bronner, M. (Myriam), Delnatte, C.D. (Capucine), Bézieau, S. (Stéphane), Mari, V. (Véronique), Gauthier-Villars, M. (Marion), Buecher, B. (Bruno), Rouleau, E. (Etienne), Golmard, L. (Lisa), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Pauw, A. (Antoine) de, Elan, C. (Camille), Fourme, E. (Emmanuelle), Birot, A.-M. (Anne-Marie), Saule, C. (Claire), Laurent, M. (Maïté), Houdayer, C. (Claude), Lesueur, F. (Fabienne), Mebirouk, N. (Noura), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Warcoin, M. (Mathilde), Prieur, F. (Fabienne), Lebrun, M. (Marine), Kientz, C. (Caroline), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Mortemousque, I. (Isabelle), Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Guillaud-Bataille, M. (Marine), Gregory, H. (Helen), Miedzybrodzka, Z. (Zosia), Morrison, P.J. (Patrick), Donaldson, A. (Alan), Rogers, M.T. (Mark), Kennedy, M.J. (John), Porteous, M.E. (Mary), Brady, A. (A.), Barwell, J. (Julian), Foo, C. (Claire), Lalloo, F. (Fiona), Side, L. (Lucy), Eason, J. (Jacqueline), Henderson, A. (Alex), Walker, L.J. (Lisa), Cook, J. (Jackie), Snape, K. (Katie), Murray, A. (Alexandra), McCann, E. (Emma), Rookus, M.A. (Matti), Leeuwen, F.E. (Flora) van, Kolk, L.E. (Lizet) van der, Russell, N.S. (Nicola), Lange, J.L. (J.) de, Wijnands, R., Collée, J.M. (Margriet), Hooning, M.J. (Maartje), Seynaeve, C., Deurzen, C.H.M. (Carolien) van, Obdeijn, A.I.M. (Inge-Marie), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Ausems, M.G.E.M. (Margreet), Pol, C. (Carmen) van der, Os, T.A.M. (Theo) van, Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gómez García, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Vasen, H. (Hans), Siesling, S., Verloop, J., Overbeek, L.I.H. (Lucy), Fox, S.B. (Stephen), Kirk, J. (Judy), Lindeman, G.J. (Geoffrey), and Price, M. (Melanie)
Abstract: A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
Published: 2016
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27. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Author: Meeks, H.D. (Huong D.), Song, H. (Honglin), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet), Dennis, J. (Joe), Wang, Q. (Qing), Barrowdale, D. (Daniel), Frost, D. (Debra), McGuffog, L. (Lesley), Ellis, S.D. (Steve), Feng, B. (Bingjian), Buys, S.S. (Saundra), Hopper, J.L. (John), Southey, M.C. (Melissa), Tesoriero, A. (Andrea), James, M. (Margaret), Bruinsma, F. (Fiona), Campbell, I. (Ian), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Hogervorst, F.B.L. (Frans), Beckmann, M.W. (Matthias), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Johnson, N. (Nichola), Sawyer, E.J. (Elinor), Riboli, E. (Elio), Banerjee, S. (Susana), Menon, U. (Usha), Tomlinson, I. (Ian), Burwinkel, B. (Barbara), Hamann, U. (Ute), Marme, F. (Federick), Rudolph, A. (Anja), Janavicius, R. (Ramunas), Tihomirova, L. (Laima), Tung, N. (Nadine), Garber, J. (Judy), Cramer, D. (Daniel), Terry, K.L. (Kathryn), Poole, E.M. (Elizabeth), Tworoger, S. (Shelley), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Godwin, A.K. (Andrew K.), Guénel, P. (Pascal), Truong, T. (Thérèse), Stoppa-Lyonnet, D. (Dominique), Damiola, F. (Francesca), Mazoyer, S. (Sylvie), Sinilnikova, O. (Olga), Isaacs, C. (Claudine), Maugard, C., Bojesen, S.E. (Stig), Flyger, H. (Henrik), Gerdes, A-M. (Anne-Marie), Hansen, T.V.O. (Thomas), Jensen, A. (Allen), Kjaer, M. (Michael), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Pedersen, I.S. (Inge Sokilde), Thomassen, M. (Mads), Benítez, J. (Javier), González-Neira, A. (Anna), Osorio, A. (Ana), Hoya, M.D.L. (Miguel De La), Segura, P.P. (Pedro Perez), Díez, O. (Orland), Lázaro, C. (Conxi), Brunet, J. (Joan), Anton-Culver, H. (Hoda), Eunjung, L. (Lee), John, E.M. (Esther), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Castillo, D. (Danielle), Weitzel, J.N. (Jeffrey), Ganz, P.A. (Patricia A.), Nussbaum, R. (Robert), Chan, S. (Salina), Karlan, B.Y. (Beth Y.), Lester, K.J. (Kathryn), Wu, A. (Anna), Gayther, S.A. (Simon), Ramus, S.J. (Susan), Sieh, W. (Weiva), Whittermore, A.S. (Alice S.), Monteiro, A.N.A. (Alvaro N.A.), Phelan, C. (Catherine), Terry, M.B. (Mary Beth), Piedmonte, M. (Marion), Offit, K. (Kenneth), Robson, M. (Mark), Levine, D.A. (Douglas), Moysich, K.B. (Kirsten B.), Cannioto, R. (Rikki), Olson, S.H. (Sara), Daly, M.B. (Mary B.), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Lu, K.H. (Karen), Liang, D. (Dong), Hildebrant, M.A.T. (Michelle A.T.), Ness, R.B. (Roberta), Modugno, F. (Francesmary), Pearce, L. (Leigh), Goodman, M.T. (Marc T.), Thompson, P.J. (Pamela J.), Brenner, H. (Hermann), Butterbach, K. (Katja), Meindl, A. (Alfons), Hahnen, E. (Eric), Wapenschmidt, B. (Barbara), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Blomqvist, C. (Carl), Khan, S. (Sofia), Nevanlinna, H. (Heli), Pelttari, L.M. (Liisa), Aittomäki, K. (Kristiina), Butzow, R. (Ralf), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Rantala, J. (Johanna), Kosma, V-M. (Veli-Matti), Mannermaa, A. (Arto), Lambrechts, D. (Diether), Neven, P. (Patrick), Claes, K.B.M. (Kathleen B.M.), Van Maerken, T. (Tom), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Heitz, P.U., Varon-Mateeva, R. (Raymonda), Peterlongo, P. (Paolo), Radice, P. (Paolo), Viel, A. (Alessandra), Barile, M. (Monica), Peissel, B. (Bernard), Manoukian, S. (Siranoush), Montagna, M. (Marco), Oliani, C. (Cristina), Peixoto, A. (Ana), Teixeira, P.J., Collavoli, A. (Anita), Hallberg, B. (Boubou), Olson, J.E. (Janet), Goode, E.L. (Ellen L.), Hart, S.N. (Steven N.), Shimelis, H. (Hermela), Cunningham, J.M. (Julie), Giles, G.G. (Graham), Milne, R.L. (Roger), Healey, S. (Sue), Tucker, K. (Kathy), Haiman, C.A. (Christopher A.), Henderson, B.E. (Brian), Goldberg, M.S. (Mark), Tischkowitz, M. (Marc), Simard, J. (Jacques), Soucy, P. (Penny), Eccles, D. (Diana), Le, N. (Nhu), Borresen-Dale, A.-L. (Anne-Lise), Kristensen, V. (Vessela), Salvesen, H.B. (Helga), Bjorge, L. (Line), Bandera, E.V. (Elisa), Risch, H. (Harvey), Zheng, W. (Wei), Beeghly-Fadiel, A. (Alicia), Cai, H. (Hui), Pykäs, K. (Katri), Tollenaar, R.A.E.M. (Rob), Ouweland, A.M.W. (Ans) van den, Andrulis, I.L. (Irene), Knight, J.A. (Julia A.), Narod, S. (Steven), Devilee, P. (Peter), Winqvist, R. (Robert), Figueroa, J.D. (Jonine), Greene, M.H. (Mark H.), Mai, P.L. (Phuong), Loud, J.T. (Jennifer), García-Closas, M. (Montserrat), Schoemaker, M. (Minouk), Czene, K. (Kamila), Darabi, H. (Hatef), McNeish, I. (Iain), Siddiquil, N. (Nadeem), Glasspool, R. (Rosalind), Kwong, A. (Ava), Park, S.K. (Sue K.), Teo, S.-H. (Soo-Hwang), Yoon, S.-Y. (Sook-Yee), Matsuo, K. (Keitaro), Hosono, N. (Naoya), Woo, Y.L. (Yin Ling), Gao, Y. (Ying), Foretova, L. (Lenka), Singer, C.F. (Christian), Rappaport-Feurhauser, C. (Christine), Friedman, E. (Eitan), Laitman, Y. (Yael), Rennert, G. (Gad), Imyanitov, E.N. (Evgeny), Hulick, P.J. (Peter), Olopade, O.I. (Olufunmilayo I.), Senter, L. (Leigha), Olah, E. (Edith), Doherty, J.A. (Jennifer A.), Schildkraut, J.M. (Joellen), Koppert, L.B. (Linetta), Kiemeney, L.A.L.M. (Bart), Massuger, L.F. (Leon), Cook, L.S. (Linda S.), Pejovic, T. (Tanja), Li, J. (Jingmei), Borg, Å. (Åke), Öfverholm, A. (Anna), Rossing, M.A. (Mary Anne), Wentzensen, N. (N.), Henriksson, K. (Karin), Cox, A. (Angela), Cross, S.S. (Simon), Pasini, B. (Barbara), Shah, M. (Mitul), Kabisch, M. (Maria), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Agnarsson, B.A. (Bjarni), Kupryjanczyk, J. (Jolanta), Moes-Sosnowska, J. (Joanna), Fostira, F. (Florentia), Konstantopoulou, I. (I.), Slager, S. (Susan), Jones, M. (Michael), Antoniou, A.C. (Antonis), Berchuck, A. (Andrew), Swerdlow, A.J. (Anthony ), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Hall, P. (Per), Easton, D.F. (Douglas F.), Couch, F.J. (Fergus), Spurdle, A.B. (Amanda), Goldgar, D. (David), Meeks, H.D. (Huong D.), Song, H. (Honglin), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet), Dennis, J. (Joe), Wang, Q. (Qing), Barrowdale, D. (Daniel), Frost, D. (Debra), McGuffog, L. (Lesley), Ellis, S.D. (Steve), Feng, B. (Bingjian), Buys, S.S. (Saundra), Hopper, J.L. (John), Southey, M.C. (Melissa), Tesoriero, A. (Andrea), James, M. (Margaret), Bruinsma, F. (Fiona), Campbell, I. (Ian), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Hogervorst, F.B.L. (Frans), Beckmann, M.W. (Matthias), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Johnson, N. (Nichola), Sawyer, E.J. (Elinor), Riboli, E. (Elio), Banerjee, S. (Susana), Menon, U. (Usha), Tomlinson, I. (Ian), Burwinkel, B. (Barbara), Hamann, U. (Ute), Marme, F. (Federick), Rudolph, A. (Anja), Janavicius, R. (Ramunas), Tihomirova, L. (Laima), Tung, N. (Nadine), Garber, J. (Judy), Cramer, D. (Daniel), Terry, K.L. (Kathryn), Poole, E.M. (Elizabeth), Tworoger, S. (Shelley), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Godwin, A.K. (Andrew K.), Guénel, P. (Pascal), Truong, T. (Thérèse), Stoppa-Lyonnet, D. (Dominique), Damiola, F. (Francesca), Mazoyer, S. (Sylvie), Sinilnikova, O. (Olga), Isaacs, C. (Claudine), Maugard, C., Bojesen, S.E. (Stig), Flyger, H. (Henrik), Gerdes, A-M. (Anne-Marie), Hansen, T.V.O. (Thomas), Jensen, A. (Allen), Kjaer, M. (Michael), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Pedersen, I.S. (Inge Sokilde), Thomassen, M. (Mads), Benítez, J. (Javier), González-Neira, A. (Anna), Osorio, A. (Ana), Hoya, M.D.L. (Miguel De La), Segura, P.P. (Pedro Perez), Díez, O. (Orland), Lázaro, C. (Conxi), Brunet, J. (Joan), Anton-Culver, H. (Hoda), Eunjung, L. (Lee), John, E.M. (Esther), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Castillo, D. (Danielle), Weitzel, J.N. (Jeffrey), Ganz, P.A. (Patricia A.), Nussbaum, R. (Robert), Chan, S. (Salina), Karlan, B.Y. (Beth Y.), Lester, K.J. (Kathryn), Wu, A. (Anna), Gayther, S.A. (Simon), Ramus, S.J. (Susan), Sieh, W. (Weiva), Whittermore, A.S. (Alice S.), Monteiro, A.N.A. (Alvaro N.A.), Phelan, C. (Catherine), Terry, M.B. (Mary Beth), Piedmonte, M. (Marion), Offit, K. (Kenneth), Robson, M. (Mark), Levine, D.A. (Douglas), Moysich, K.B. (Kirsten B.), Cannioto, R. (Rikki), Olson, S.H. (Sara), Daly, M.B. (Mary B.), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Lu, K.H. (Karen), Liang, D. (Dong), Hildebrant, M.A.T. (Michelle A.T.), Ness, R.B. (Roberta), Modugno, F. (Francesmary), Pearce, L. (Leigh), Goodman, M.T. (Marc T.), Thompson, P.J. (Pamela J.), Brenner, H. (Hermann), Butterbach, K. (Katja), Meindl, A. (Alfons), Hahnen, E. (Eric), Wapenschmidt, B. (Barbara), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Blomqvist, C. (Carl), Khan, S. (Sofia), Nevanlinna, H. (Heli), Pelttari, L.M. (Liisa), Aittomäki, K. (Kristiina), Butzow, R. (Ralf), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Rantala, J. (Johanna), Kosma, V-M. (Veli-Matti), Mannermaa, A. (Arto), Lambrechts, D. (Diether), Neven, P. (Patrick), Claes, K.B.M. (Kathleen B.M.), Van Maerken, T. (Tom), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Heitz, P.U., Varon-Mateeva, R. (Raymonda), Peterlongo, P. (Paolo), Radice, P. (Paolo), Viel, A. (Alessandra), Barile, M. (Monica), Peissel, B. (Bernard), Manoukian, S. (Siranoush), Montagna, M. (Marco), Oliani, C. (Cristina), Peixoto, A. (Ana), Teixeira, P.J., Collavoli, A. (Anita), Hallberg, B. (Boubou), Olson, J.E. (Janet), Goode, E.L. (Ellen L.), Hart, S.N. (Steven N.), Shimelis, H. (Hermela), Cunningham, J.M. (Julie), Giles, G.G. (Graham), Milne, R.L. (Roger), Healey, S. (Sue), Tucker, K. (Kathy), Haiman, C.A. (Christopher A.), Henderson, B.E. (Brian), Goldberg, M.S. (Mark), Tischkowitz, M. (Marc), Simard, J. (Jacques), Soucy, P. (Penny), Eccles, D. (Diana), Le, N. (Nhu), Borresen-Dale, A.-L. (Anne-Lise), Kristensen, V. (Vessela), Salvesen, H.B. (Helga), Bjorge, L. (Line), Bandera, E.V. (Elisa), Risch, H. (Harvey), Zheng, W. (Wei), Beeghly-Fadiel, A. (Alicia), Cai, H. (Hui), Pykäs, K. (Katri), Tollenaar, R.A.E.M. (Rob), Ouweland, A.M.W. (Ans) van den, Andrulis, I.L. (Irene), Knight, J.A. (Julia A.), Narod, S. (Steven), Devilee, P. (Peter), Winqvist, R. (Robert), Figueroa, J.D. (Jonine), Greene, M.H. (Mark H.), Mai, P.L. (Phuong), Loud, J.T. (Jennifer), García-Closas, M. (Montserrat), Schoemaker, M. (Minouk), Czene, K. (Kamila), Darabi, H. (Hatef), McNeish, I. (Iain), Siddiquil, N. (Nadeem), Glasspool, R. (Rosalind), Kwong, A. (Ava), Park, S.K. (Sue K.), Teo, S.-H. (Soo-Hwang), Yoon, S.-Y. (Sook-Yee), Matsuo, K. (Keitaro), Hosono, N. (Naoya), Woo, Y.L. (Yin Ling), Gao, Y. (Ying), Foretova, L. (Lenka), Singer, C.F. (Christian), Rappaport-Feurhauser, C. (Christine), Friedman, E. (Eitan), Laitman, Y. (Yael), Rennert, G. (Gad), Imyanitov, E.N. (Evgeny), Hulick, P.J. (Peter), Olopade, O.I. (Olufunmilayo I.), Senter, L. (Leigha), Olah, E. (Edith), Doherty, J.A. (Jennifer A.), Schildkraut, J.M. (Joellen), Koppert, L.B. (Linetta), Kiemeney, L.A.L.M. (Bart), Massuger, L.F. (Leon), Cook, L.S. (Linda S.), Pejovic, T. (Tanja), Li, J. (Jingmei), Borg, Å. (Åke), Öfverholm, A. (Anna), Rossing, M.A. (Mary Anne), Wentzensen, N. (N.), Henriksson, K. (Karin), Cox, A. (Angela), Cross, S.S. (Simon), Pasini, B. (Barbara), Shah, M. (Mitul), Kabisch, M. (Maria), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Agnarsson, B.A. (Bjarni), Kupryjanczyk, J. (Jolanta), Moes-Sosnowska, J. (Joanna), Fostira, F. (Florentia), Konstantopoulou, I. (I.), Slager, S. (Susan), Jones, M. (Michael), Antoniou, A.C. (Antonis), Berchuck, A. (Andrew), Swerdlow, A.J. (Anthony ), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Pharoah, P.D.P. (Paul), Hall, P. (Per), Easton, D.F. (Douglas F.), Couch, F.J. (Fergus), Spurdle, A.B. (Amanda), and Goldgar, D. (David)
Abstract: Background: The K3326X variant in BRCA2 (BRCA2∗c.9976A>T p.Lys3326∗rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormonerelated cancers. Methods: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76637 cancer case patients and 83796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided. Results: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9×10-6) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8×10-3). These associations were stronger for serous ovarian cancer and for estrogen receptor-negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4×10-5 and ORw = 1.50, 95% CI = 1.28 to
Published: 2016
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28. Genetic predisposition to ductal carcinoma in situ of the breast

Author: Petridis, C. (Christos), Brook, R.H., Shah, V. (Vandna), Kohut, K. (Kelly), Gorman, P. (Patricia), Caneppele, M. (Michele), Levi, D. (Dina), Papouli, E. (Efterpi), Orr, N. (Nick), Cox, A. (Angela), Cross, S.S. (Simon), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Swerdlow, A.J. (Anthony ), Schoemaker, M. (Minouk), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Benítez, J. (Javier), González-Neira, A. (Anna), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Li, J. (Jingmei), Figueroa, J.D. (Jonine), Kristensen, V. (Vessela), Borresen-Dale, A.-L. (Anne-Lise), Soucy, P. (Penny), Simard, J. (Jacques), Milne, R.L. (Roger), Giles, G.G. (Graham), Margolin, S. (Sara), Lindblom, A. (Annika), Brüning, T. (Thomas), Brauch, H. (Hiltrud), Southey, M.C. (Melissa), Hopper, J.L. (John), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Kabisch, M. (Maria), Hamann, U. (Ute), Schmutzler, R.K. (Rita), Meindl, A. (Alfons), Brenner, H. (Hermann), Arndt, V. (Volker), Winqvist, R. (Robert), Pykäs, K. (Katri), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Lubinski, J. (Jan), Jakubowska, A. (Anna), Mulligan, A.M. (Anna Marie), Andrulis, I.L. (Irene), Tollenaar, R.A.E.M. (Rob), Devilee, P. (Peter), Le Marchand, L. (Loic), Haiman, C.A. (Christopher), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Radice, P. (Paolo), Peterlongo, P. (Paolo), Marme, F. (Federick), Burwinkel, B. (Barbara), Deurzen, C.H.M. (Carolien) van, Hollestelle, A. (Antoinette), Miller, N. (Nicola), Kerin, M. (Michael), Lambrechts, D. (Diether), Floris, O.A.M., Wesseling, J. (Jelle), Flyger, H. (Henrik), Bojesen, S.E. (Stig), Yao, S. (Song), Ambrosone, C.B. (Christine), Chenevix-Trench, G. (Georgia), Truong, T. (Thérèse), Guénel, P. (Pascal), Rudolph, A. (Anja), Chang-Claude, J. (Jenny), Nevanlinna, H. (Heli), Blomqvist, C. (Carl), Czene, K. (Kamila), Brand, J.S. (Judith S.), Olson, J.E. (Janet), Couch, F.J. (Fergus), Dunning, A.M. (Alison), Hall, P. (Per), Easton, D.F. (Douglas), Pharoah, P.D.P. (Paul), Pinder, S. (Sarah), Schmidt, M.K. (Marjanka), Tomlinson, I.P. (Ian), Roylance, R. (Rebecca), García-Closas, M. (Montserrat), Sawyer, E.J. (Elinor), Petridis, C. (Christos), Brook, R.H., Shah, V. (Vandna), Kohut, K. (Kelly), Gorman, P. (Patricia), Caneppele, M. (Michele), Levi, D. (Dina), Papouli, E. (Efterpi), Orr, N. (Nick), Cox, A. (Angela), Cross, S.S. (Simon), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Swerdlow, A.J. (Anthony ), Schoemaker, M. (Minouk), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Benítez, J. (Javier), González-Neira, A. (Anna), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Li, J. (Jingmei), Figueroa, J.D. (Jonine), Kristensen, V. (Vessela), Borresen-Dale, A.-L. (Anne-Lise), Soucy, P. (Penny), Simard, J. (Jacques), Milne, R.L. (Roger), Giles, G.G. (Graham), Margolin, S. (Sara), Lindblom, A. (Annika), Brüning, T. (Thomas), Brauch, H. (Hiltrud), Southey, M.C. (Melissa), Hopper, J.L. (John), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Kabisch, M. (Maria), Hamann, U. (Ute), Schmutzler, R.K. (Rita), Meindl, A. (Alfons), Brenner, H. (Hermann), Arndt, V. (Volker), Winqvist, R. (Robert), Pykäs, K. (Katri), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Lubinski, J. (Jan), Jakubowska, A. (Anna), Mulligan, A.M. (Anna Marie), Andrulis, I.L. (Irene), Tollenaar, R.A.E.M. (Rob), Devilee, P. (Peter), Le Marchand, L. (Loic), Haiman, C.A. (Christopher), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Radice, P. (Paolo), Peterlongo, P. (Paolo), Marme, F. (Federick), Burwinkel, B. (Barbara), Deurzen, C.H.M. (Carolien) van, Hollestelle, A. (Antoinette), Miller, N. (Nicola), Kerin, M. (Michael), Lambrechts, D. (Diether), Floris, O.A.M., Wesseling, J. (Jelle), Flyger, H. (Henrik), Bojesen, S.E. (Stig), Yao, S. (Song), Ambrosone, C.B. (Christine), Chenevix-Trench, G. (Georgia), Truong, T. (Thérèse), Guénel, P. (Pascal), Rudolph, A. (Anja), Chang-Claude, J. (Jenny), Nevanlinna, H. (Heli), Blomqvist, C. (Carl), Czene, K. (Kamila), Brand, J.S. (Judith S.), Olson, J.E. (Janet), Couch, F.J. (Fergus), Dunning, A.M. (Alison), Hall, P. (Per), Easton, D.F. (Douglas), Pharoah, P.D.P. (Paul), Pinder, S. (Sarah), Schmidt, M.K. (Marjanka), Tomlinson, I.P. (Ian), Roylance, R. (Rebecca), García-Closas, M. (Montserrat), and Sawyer, E.J. (Elinor)
Abstract: Background: Ductal carcinoma in situ (DCIS) is a non-invasive form of breast cancer. It is often associated with invasive ductal carcinoma (IDC), and is considered to be a non-obligate precursor of IDC. It is not clear to what extent these two forms of cancer share low-risk susceptibility loci, or whether there are differences in the strength of association for shared loci. Methods: To identify genetic polymorphisms that predispose to DCIS, we pooled data from 38 studies comprising 5,067 cases of DCIS, 24,584 cases of IDC and 37,467 controls, all genotyped using the iCOGS chip. Results: Most (67 %) of the 76 known breast cancer predisposition loci showed an association with DCIS in the same direction as previously reported for invasive breast cancer. Case-only analysis showed no evidence for differences between associations for IDC and DCIS after considering multiple testing. Analysis by estrogen receptor (ER) status confirmed that loci associated with ER positive IDC were also associated with ER positive DCIS. Analysis of DCIS by grade suggested that two independent SNPs at 11q13.3 near CCND1 were specific to low/intermediate grade DCIS (rs75915166, rs554219). These associations with grade remained after adjusting for ER status and were also found in IDC. We found no novel DCIS-specific loci at a genome wide significance level of P < 5.0x10-8. Conclusion: In conclusion, this study provides the strongest evidence to date of a shared genetic susceptibility for IDC and DCIS. Studies with larger numbers of DCIS are needed to determine if IDC or DCIS specific loci exist.
Published: 2016
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29. Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

Author: Ghoussaini, M. (Maya), French, J.D. (Juliet), Michailidou, K. (Kyriaki), Nord, S. (Silje), Beesley, J. (Jonathan), Canisus, S. (Sander), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Sivakumaran, H. (Haran), Moradi Marjaneh, M. (Mahdi), Lee, J.S. (Jason), Dennis, J. (Joe), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Dicks, E. (Ed), Milne, R.L. (Roger), Hopper, J.L. (John L.), Southey, M.C. (Melissa C.), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Burwinkel, B. (Barbara), Marme, F. (Frederik), Guénel, P. (Pascal), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Benítez, J. (Javier), González-Neira, A. (Anna), Alonso, M.R. (Rosario), Pita, G. (Guillermo), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Brenner, H. (Hermann), Arndt, V. (Volker), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Nevanlinna, H. (Heli), Khan, S. (Sofia), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Wu, A.H. (Anna), Van Den Berg, D. (David), Lambrechts, D. (Diether), Floris, O.A.M., Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Radice, P. (Paolo), Barile, M. (Monica), Couch, F.J. (Fergus), Hallberg, E. (Emily), Giles, G.G. (Graham G.), Haiman, C.A. (Christopher A.), Le Marchand, L. (Loic), Goldberg, M.S. (Mark), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Cai, Q. (Qiuyin), Winqvist, R. (Robert), Pykäs, K. (Katri), Andrulis, I.L. (Irene), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Hall, P. (Per), Czene, K. (Kamila), Brand, J.S. (Judith S.), Darabi, H. (Hatef), Eriksson, M. (Mats), Hooning, M.J. (Maartje), Koppert, L.B. (Linetta B.), Li, J. (Jingmei), Shu, X.-O. (Xiao-Ou), Zheng, Y. (Ying), Cox, A. (Angela), Cross, S.S. (Simon), Shah, M. (Mitul), Rhenius, V. (Valerie), Choi, J.-Y. (Ji-Yeob), Kang, D. (Daehee), Hartman, J.M. (Joost), Chia, K.S. (Kee Seng), Kabisch, M. (Maria), Torres, D. (Diana), Luccarini, C. (Craig), Conroy, D. (Don), Jakubowska, A. (Anna), Lubinski, J. (Jan), Sangrajrang, S. (Suleeporn), Brennan, P. (Paul), Olswold, C. (Curtis), Slager, S. (Susan), Shen, C.-Y. (Chen-Yang), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Schoemaker, M. (Minouk), Simard, J. (Jacques), Pharoah, P.D.P. (Paul), Kristensen, V. (Vessela), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas F.), Dunning, A.M. (Alison), Edwards, S.L. (Stacey), Ghoussaini, M. (Maya), French, J.D. (Juliet), Michailidou, K. (Kyriaki), Nord, S. (Silje), Beesley, J. (Jonathan), Canisus, S. (Sander), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Sivakumaran, H. (Haran), Moradi Marjaneh, M. (Mahdi), Lee, J.S. (Jason), Dennis, J. (Joe), Bolla, M.K. (Manjeet K.), Wang, Q. (Qin), Dicks, E. (Ed), Milne, R.L. (Roger), Hopper, J.L. (John L.), Southey, M.C. (Melissa C.), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Burwinkel, B. (Barbara), Marme, F. (Frederik), Guénel, P. (Pascal), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Benítez, J. (Javier), González-Neira, A. (Anna), Alonso, M.R. (Rosario), Pita, G. (Guillermo), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Brenner, H. (Hermann), Arndt, V. (Volker), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Nevanlinna, H. (Heli), Khan, S. (Sofia), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Wu, A.H. (Anna), Van Den Berg, D. (David), Lambrechts, D. (Diether), Floris, O.A.M., Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Radice, P. (Paolo), Barile, M. (Monica), Couch, F.J. (Fergus), Hallberg, E. (Emily), Giles, G.G. (Graham G.), Haiman, C.A. (Christopher A.), Le Marchand, L. (Loic), Goldberg, M.S. (Mark), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Cai, Q. (Qiuyin), Winqvist, R. (Robert), Pykäs, K. (Katri), Andrulis, I.L. (Irene), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Hall, P. (Per), Czene, K. (Kamila), Brand, J.S. (Judith S.), Darabi, H. (Hatef), Eriksson, M. (Mats), Hooning, M.J. (Maartje), Koppert, L.B. (Linetta B.), Li, J. (Jingmei), Shu, X.-O. (Xiao-Ou), Zheng, Y. (Ying), Cox, A. (Angela), Cross, S.S. (Simon), Shah, M. (Mitul), Rhenius, V. (Valerie), Choi, J.-Y. (Ji-Yeob), Kang, D. (Daehee), Hartman, J.M. (Joost), Chia, K.S. (Kee Seng), Kabisch, M. (Maria), Torres, D. (Diana), Luccarini, C. (Craig), Conroy, D. (Don), Jakubowska, A. (Anna), Lubinski, J. (Jan), Sangrajrang, S. (Suleeporn), Brennan, P. (Paul), Olswold, C. (Curtis), Slager, S. (Susan), Shen, C.-Y. (Chen-Yang), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Schoemaker, M. (Minouk), Simard, J. (Jacques), Pharoah, P.D.P. (Paul), Kristensen, V. (Vessela), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas F.), Dunning, A.M. (Alison), and Edwards, S.L. (Stacey)
Abstract: Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495–45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER+) breast cancer (per-g allele OR ER+ = 1.15; 95% CI 1.13–1.18; p = 8.35 × 10−30). After adjustment for rs10941679, we detected signal 2, consisting of 38 SNPs more strongly associated with ER-negative (ER−) breast cancer (lead SNP rs6864776: per-a allele OR ER− = 1.10; 95% CI 1.05–1.14; p conditional = 1.44 × 10−12), and a single signal 3 SNP (rs200229088: per-t allele OR ER+ = 1.12; 95% CI 1.09–1.15; p conditional = 1.12 × 10−05). Expression quantitative trait locus analysis in normal breast tissues and breast tumors showed that the g (risk) allele of rs10941679 was associated with increased expression of FGF10 and MRPS30. Functional assays demonstrated that SNP rs10941679 maps to an enhancer element that physically interacts with the FGF10 and MRPS30 promoter regions in breast cancer cell lines. FGF10 is an oncogene that binds to FGFR2 and is overexpressed in ∼10% of human breast cancers, whereas MRPS30 plays a key role in apoptosis. These data suggest that the strongest signal of association at 5p12 is mediated through coordinated activation of FGF10 and MRPS30, two candidate genes for breast cancer pathogenesis.
Published: 2016
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30. Fine-mapping of the 1p11.2 breast cancer susceptibility locus

Author: Horne, H.N. (Hisani N.), Chung, C.C. (Charles C.), Zhang, H. (Han), Yu, K. (Kai), Prokunina-Olsson, L. (Ludmila), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, Q. (Qing), Dennis, J. (Joe), Hopper, J.L. (John), Southey, M.C. (Melissa), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Burwinkel, B. (Barbara), Marme, F. (Frederik), Guénel, P. (Pascal), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Benítez, J. (Javier), González-Neira, A. (Anna), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Arndt, V. (Volker), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Nevanlinna, H. (Heli), Khan, S. (Sofia), Matsuo, K. (Keitaro), Iwata, H. (Hiroji), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Chenevix-Trench, G. (Georgia), Wu, A.H. (Anna), Ven Den Berg, D. (David), Smeets, A. (Ann), Zhao, H. (Hui), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Radice, P. (Paolo), Barile, M. (Monica), Couch, F.J. (Fergus), Vachon, C. (Celine), Giles, G.G. (Graham G.), Milne, R.L. (Roger), Haiman, C.A. (Christopher A.), Le Marchand, L. (Loic), Goldberg, M.S. (Mark), Teo, S.-H. (Soo-Hwang), Taib, N.A.M. (Nur Aishah Mohd), Kristensen, V. (Vessela), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Shrubsole, M. (Martha), Winqvist, R. (Robert), Jukkola-Vuorinen, A. (Arja), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Devilee, P. (Peter), Seynaeve, C.M. (Caroline), García-Closas, M. (Montserrat), Czene, K. (Kamila), Darabi, H. (Hatef), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Li, J. (Jingmei), Lu, W. (Wei), Shu, X.-O. (Xiao-Ou), Cox, A. (Angela), Cross, S.S. (Simon), Blot, W.J. (William), Cai, Q. (Qiuyin), Shah, M. (Mitul), Luccarini, C. (Craig), Baynes, C. (Caroline), harrington, P. (Patricia), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Hartman, J.M. (Joost), Chia, K.S. (Kee Seng), Kabisch, M. (Maria), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Sangrajrang, S. (Suleeporn), Brennan, P. (Paul), Slager, S. (Susan), Yannoukakos, D. (Drakoulis), Shen, C.-Y. (Chen-Yang), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Orr, N. (Nick), Simard, J. (Jacques), Hall, P. (Per), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas F.), Chanock, S.J. (Stephen J.), Dunning, A.M. (Alison), Figueroa, J.D. (Jonine), Horne, H.N. (Hisani N.), Chung, C.C. (Charles C.), Zhang, H. (Han), Yu, K. (Kai), Prokunina-Olsson, L. (Ludmila), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, Q. (Qing), Dennis, J. (Joe), Hopper, J.L. (John), Southey, M.C. (Melissa), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Burwinkel, B. (Barbara), Marme, F. (Frederik), Guénel, P. (Pascal), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Benítez, J. (Javier), González-Neira, A. (Anna), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Arndt, V. (Volker), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Nevanlinna, H. (Heli), Khan, S. (Sofia), Matsuo, K. (Keitaro), Iwata, H. (Hiroji), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Chenevix-Trench, G. (Georgia), Wu, A.H. (Anna), Ven Den Berg, D. (David), Smeets, A. (Ann), Zhao, H. (Hui), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Radice, P. (Paolo), Barile, M. (Monica), Couch, F.J. (Fergus), Vachon, C. (Celine), Giles, G.G. (Graham G.), Milne, R.L. (Roger), Haiman, C.A. (Christopher A.), Le Marchand, L. (Loic), Goldberg, M.S. (Mark), Teo, S.-H. (Soo-Hwang), Taib, N.A.M. (Nur Aishah Mohd), Kristensen, V. (Vessela), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Shrubsole, M. (Martha), Winqvist, R. (Robert), Jukkola-Vuorinen, A. (Arja), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Devilee, P. (Peter), Seynaeve, C.M. (Caroline), García-Closas, M. (Montserrat), Czene, K. (Kamila), Darabi, H. (Hatef), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Li, J. (Jingmei), Lu, W. (Wei), Shu, X.-O. (Xiao-Ou), Cox, A. (Angela), Cross, S.S. (Simon), Blot, W.J. (William), Cai, Q. (Qiuyin), Shah, M. (Mitul), Luccarini, C. (Craig), Baynes, C. (Caroline), harrington, P. (Patricia), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Hartman, J.M. (Joost), Chia, K.S. (Kee Seng), Kabisch, M. (Maria), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Sangrajrang, S. (Suleeporn), Brennan, P. (Paul), Slager, S. (Susan), Yannoukakos, D. (Drakoulis), Shen, C.-Y. (Chen-Yang), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Orr, N. (Nick), Simard, J. (Jacques), Hall, P. (Per), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas F.), Chanock, S.J. (Stephen J.), Dunning, A.M. (Alison), and Figueroa, J.D. (Jonine)
Abstract: The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2:120,300,000-120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Perallelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08-1.13, P = 1.49 x 10-21). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity P<8.41 x 10-5). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silic
Published: 2016
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31. Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

Author: Guo, Y. (Yan), Warren Andersen, S. (Shaneda), Shu, X.-O. (Xiao-Ou), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, Q. (Qing), García-Closas, M. (Montserrat), Milne, R.L. (Roger), Schmidt, M.K. (Marjanka), Chang-Claude, J. (Jenny), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Ahsan, H. (Habibul), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Bogdanova, N.V. (Natalia), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Casey, G. (Graham), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Devilee, P. (Peter), Dörk, T. (Thilo), Dumont, M. (Martine), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gammon, M. (Marilie), Giles, G.G. (Graham), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hooning, M.J. (Maartje), Hopper, J.L. (John), Jakubowska, A. (Anna), Jasmine, F. (Farzana), Jenkins, M. (Mark), John, E.M. (Esther), Johnson, N. (Nichola), Jones, M. (Michael), Kabisch, M. (Maria), Kibriya, M.G. (Muhammad), Knight, J.A. (Julia), Koppert, L.B. (Linetta), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Le Marchand, L. (Loic), Lee, E. (Eunjung), Li, J. (Jingmei), Lindblom, A. (Annika), Luben, R.N. (Robert), Lubinski, J. (Jan), Malone, K. (Kathi), Mannermaa, A. (Arto), Margolin, S. (Sara), Marme, F. (Federick), McLean, C.A. (Catriona Ann), Meijers-Heijboer, E.J. (Hanne), Meindl, A. (Alfons), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Olson, J.E. (Janet), Perez, J.I.A. (Jose Ignacio Arias), Perkins, B. (Barbara), Peterlongo, P. (Paolo), Phillips, K.-A. (Kelly-Anne), Pykäs, K. (Katri), Rudolph, A. (Anja), Santella, R. (Regina), Sawyer, E.J. (Elinor), Schmutzler, R.K. (Rita), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Toland, A.E. (Amanda), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Ursin, G. (Giske), Luijt, R.B. (Rob) van der, Verhoef, S., Whittemore, A.S. (Alice S.), Winqvist, R. (Robert), Zhao, H. (Hui), Zhao, S. (Shilin), Hall, P. (Per), Simard, J. (Jacques), Kraft, P. (Peter), Pharoah, P.D.P. (Paul), Hunter, D. (David), Easton, D.F. (Douglas F.), Zheng, W. (Wei), Guo, Y. (Yan), Warren Andersen, S. (Shaneda), Shu, X.-O. (Xiao-Ou), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, Q. (Qing), García-Closas, M. (Montserrat), Milne, R.L. (Roger), Schmidt, M.K. (Marjanka), Chang-Claude, J. (Jenny), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Ahsan, H. (Habibul), Aittomäki, K. (Kristiina), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Bogdanova, N.V. (Natalia), Bonnani, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Casey, G. (Graham), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Devilee, P. (Peter), Dörk, T. (Thilo), Dumont, M. (Martine), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gammon, M. (Marilie), Giles, G.G. (Graham), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hooning, M.J. (Maartje), Hopper, J.L. (John), Jakubowska, A. (Anna), Jasmine, F. (Farzana), Jenkins, M. (Mark), John, E.M. (Esther), Johnson, N. (Nichola), Jones, M. (Michael), Kabisch, M. (Maria), Kibriya, M.G. (Muhammad), Knight, J.A. (Julia), Koppert, L.B. (Linetta), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Le Marchand, L. (Loic), Lee, E. (Eunjung), Li, J. (Jingmei), Lindblom, A. (Annika), Luben, R.N. (Robert), Lubinski, J. (Jan), Malone, K. (Kathi), Mannermaa, A. (Arto), Margolin, S. (Sara), Marme, F. (Federick), McLean, C.A. (Catriona Ann), Meijers-Heijboer, E.J. (Hanne), Meindl, A. (Alfons), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Olson, J.E. (Janet), Perez, J.I.A. (Jose Ignacio Arias), Perkins, B. (Barbara), Peterlongo, P. (Paolo), Phillips, K.-A. (Kelly-Anne), Pykäs, K. (Katri), Rudolph, A. (Anja), Santella, R. (Regina), Sawyer, E.J. (Elinor), Schmutzler, R.K. (Rita), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Toland, A.E. (Amanda), Tomlinson, I.P. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Ursin, G. (Giske), Luijt, R.B. (Rob) van der, Verhoef, S., Whittemore, A.S. (Alice S.), Winqvist, R. (Robert), Zhao, H. (Hui), Zhao, S. (Shilin), Hall, P. (Per), Simard, J. (Jacques), Kraft, P. (Peter), Pharoah, P.D.P. (Paul), Hunter, D. (David), Easton, D.F. (Douglas F.), and Zheng, W. (Wei)
Published: 2016
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32. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Couch, F.J. (Fergus), Kuchenbaecker, K.B. (Karoline), Michailidou, K. (Kyriaki), Mendoza-Fandino, G.A. (Gustavo A.), Nord, S. (Silje), Lilyquist, J. (Janna), Olswold, C. (Curtis), Hallberg, B. (Boubou), Agata, S. (Simona), Ahsan, H. (Habibul), Aittomäki, K. (Kristiina), Ambrosone, C.B. (Christine), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Barile, M. (Monica), Barkardottir, R.B. (Rosa), Barrowdale, D. (Daniel), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Blank, S.V. (Stephanie), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Buys, S.S. (Saundra S.), Caldes, T. (Trinidad), Caligo, M.A. (Maria), Canzian, F. (Federico), Carpenter, T.A. (Adrian), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Chung, W.K. (Wendy K.), Claes, K.B.M. (Kathleen B.M.), Cox, A. (Angela), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Czene, K. (Kamila), Daly, M.B. (Mary B.), Damiola, F. (Francesca), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, Devilee, P. (Peter), Díez, O. (Orland), Ding, Y.C. (Yuan), Dolcetti, R. (Riccardo), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Santos Silva, I. (Isabel) dos, Dumont, M. (Martine), Dunning, A.M. (Alison), Eccles, D. (Diana), Ehrencrona, H. (Hans), Ekici, A.B. (Arif), Eliassen, H. (Heather), Ellis, S.D. (Steve), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Försti, A. (Asta), Fostira, F. (Florentia), Foulkes, W.D. (William), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Frost, D. (Debra), Gabrielson, M. (Marike), Gammon, M. (Marilie), Ganz, P.A. (Patricia A.), Gapstur, S.M. (Susan M.), Garber, J. (Judy), Gaudet, M.M. (Mia), Gayther, S.A. (Simon), Gerdes, A-M. (Anne-Marie), Ghoussaini, M. (Maya), Giles, G.G. (Graham), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D. (David), González-Neira, A. (Anna), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Guénel, P. (Pascal), Gunter, M.J. (Marc J.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Hart, S. (Stewart), Healey, S. (Sue), Heikkinen, T. (Tuomas), Henderson, B.E. (Brian), Herzog, J. (Josef), Hogervorst, F.B.L. (Frans), Hollestelle, A. (Antoinette), Hooning, M.J. (Maartje), Hoover, R.N. (Robert), Hopper, J.L. (John), Humphreys, K. (Keith), Hunter, D. (David), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, M. (Margaret), Janavicius, R. (Ramunas), Jensen, U.B., John, E.M. (Esther), Jones, M. (Michael), Kabisch, M. (Maria), Kar, S. (Siddhartha), Karlan, B.Y. (Beth Y.), Khan, S. (Sofia), Khaw, K.T., Kibriya, M.G. (Muhammad), Knight, J.A. (Julia), Ko, Y.-D. (Yon-Dschun), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Kwong, A. (Ava), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lázaro, C. (Conxi), Lee, E. (Eunjung), Le Marchand, L. (Loic), Lester, K.J. (Kathryn), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lindstrom, S. (Stephen), Liu, J. (Jianjun), Long, J. (Jirong), Lubinski, J. (Jan), Mai, P.L. (Phuong), Makalic, E. (Enes), Malone, K.E. (Kathleen E.), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Martens, J.W.M. (John), McGuffog, L. (Lesley), Meindl, A. (Alfons), Miller, A. (Austin), Milne, R.L. (Roger), Miron, P. (Penelope), Montagna, M. (Marco), Mazoyer, S. (Sylvie), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Nathanson, K.L. (Katherine), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Osorio, A. (Ana), Park, S.K. (Sue K.), Peeters, P.H.M., Peissel, B. (Bernard), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Pilarski, R. (Robert), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Rahman, N. (Nazneen), Rantala, J. (Johanna), Rappaport, C. (Christine), Rennert, G. (Gad), Richardson, A.L. (Andrea), Robson, M. (Mark), Romieu, I. (Isabelle), Rudolph, A. (Anja), Rutgers, E.J.T. (Emiel), Sanchez, M.-J. (Maria-Jose), Santella, R. (Regina), Sawyer, E.J. (Elinor), Schmidt, D.F. (Daniel), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schumacher, F.R. (Fredrick), Scott, R.J. (Rodney), Senter, L. (Leigha), Sharma, P. (Priyanka), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Soucy, P. (Penny), Southey, M.C. (Melissa), Steinemann, D. (Doris), Stenmark-Askmalm, M. (Marie), Stoppa-Lyonnet, D. (Dominique), Swerdlow, A.J. (Anthony ), Szabo, C. (Csilla), Tamimi, R. (Rulla), Tapper, W. (William), Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, D. (Deborah), Tihomirova, L. (Laima), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Teulé, A. (A.), Tumino, R. (Rosario), Tung, N. (Nadine), Turnbull, C. (Clare), Ursin, G. (Giski), Deurzen, C.H.M. (Carolien) van, Rensburg, E.J. (Elizabeth) van, Varon-Mateeva, R. (Raymonda), Wang, Z. (Zhaoming), Wang-Gohrke, S. (Shan), Weiderpass, E. (Elisabete), Weitzel, J.N. (Jeffrey), Whittemore, A.S. (Alice S.), Wildiers, H. (Hans), Winqvist, R. (Robert), Yang, X.R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Yao, S. (Song), Zamora, M.P. (Pilar), Zheng, W. (Wei), Hall, P. (Per), Kraft, P. (Peter), Vachon, C. (Celine), Slager, S. (Susan), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Monteiro, A.A.N. (Alvaro A. N.), García-Closas, M. (Montserrat), Easton, D.F. (Douglas F.), Antoniou, A.C. (Antonis), Couch, F.J. (Fergus), Kuchenbaecker, K.B. (Karoline), Michailidou, K. (Kyriaki), Mendoza-Fandino, G.A. (Gustavo A.), Nord, S. (Silje), Lilyquist, J. (Janna), Olswold, C. (Curtis), Hallberg, B. (Boubou), Agata, S. (Simona), Ahsan, H. (Habibul), Aittomäki, K. (Kristiina), Ambrosone, C.B. (Christine), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Barile, M. (Monica), Barkardottir, R.B. (Rosa), Barrowdale, D. (Daniel), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Blank, S.V. (Stephanie), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Burwinkel, B. (Barbara), Buys, S.S. (Saundra S.), Caldes, T. (Trinidad), Caligo, M.A. (Maria), Canzian, F. (Federico), Carpenter, T.A. (Adrian), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Chung, W.K. (Wendy K.), Claes, K.B.M. (Kathleen B.M.), Cox, A. (Angela), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Czene, K. (Kamila), Daly, M.B. (Mary B.), Damiola, F. (Francesca), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, Devilee, P. (Peter), Díez, O. (Orland), Ding, Y.C. (Yuan), Dolcetti, R. (Riccardo), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Santos Silva, I. (Isabel) dos, Dumont, M. (Martine), Dunning, A.M. (Alison), Eccles, D. (Diana), Ehrencrona, H. (Hans), Ekici, A.B. (Arif), Eliassen, H. (Heather), Ellis, S.D. (Steve), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Försti, A. (Asta), Fostira, F. (Florentia), Foulkes, W.D. (William), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Frost, D. (Debra), Gabrielson, M. (Marike), Gammon, M. (Marilie), Ganz, P.A. (Patricia A.), Gapstur, S.M. (Susan M.), Garber, J. (Judy), Gaudet, M.M. (Mia), Gayther, S.A. (Simon), Gerdes, A-M. (Anne-Marie), Ghoussaini, M. (Maya), Giles, G.G. (Graham), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goldberg, M.S. (Mark), Goldgar, D. (David), González-Neira, A. (Anna), Greene, M.H. (Mark H.), Gronwald, J. (Jacek), Guénel, P. (Pascal), Gunter, M.J. (Marc J.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Hart, S. (Stewart), Healey, S. (Sue), Heikkinen, T. (Tuomas), Henderson, B.E. (Brian), Herzog, J. (Josef), Hogervorst, F.B.L. (Frans), Hollestelle, A. (Antoinette), Hooning, M.J. (Maartje), Hoover, R.N. (Robert), Hopper, J.L. (John), Humphreys, K. (Keith), Hunter, D. (David), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), James, M. (Margaret), Janavicius, R. (Ramunas), Jensen, U.B., John, E.M. (Esther), Jones, M. (Michael), Kabisch, M. (Maria), Kar, S. (Siddhartha), Karlan, B.Y. (Beth Y.), Khan, S. (Sofia), Khaw, K.T., Kibriya, M.G. (Muhammad), Knight, J.A. (Julia), Ko, Y.-D. (Yon-Dschun), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Kwong, A. (Ava), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lázaro, C. (Conxi), Lee, E. (Eunjung), Le Marchand, L. (Loic), Lester, K.J. (Kathryn), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lindstrom, S. (Stephen), Liu, J. (Jianjun), Long, J. (Jirong), Lubinski, J. (Jan), Mai, P.L. (Phuong), Makalic, E. (Enes), Malone, K.E. (Kathleen E.), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Martens, J.W.M. (John), McGuffog, L. (Lesley), Meindl, A. (Alfons), Miller, A. (Austin), Milne, R.L. (Roger), Miron, P. (Penelope), Montagna, M. (Marco), Mazoyer, S. (Sylvie), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Nathanson, K.L. (Katherine), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Osorio, A. (Ana), Park, S.K. (Sue K.), Peeters, P.H.M., Peissel, B. (Bernard), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Pilarski, R. (Robert), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Rahman, N. (Nazneen), Rantala, J. (Johanna), Rappaport, C. (Christine), Rennert, G. (Gad), Richardson, A.L. (Andrea), Robson, M. (Mark), Romieu, I. (Isabelle), Rudolph, A. (Anja), Rutgers, E.J.T. (Emiel), Sanchez, M.-J. (Maria-Jose), Santella, R. (Regina), Sawyer, E.J. (Elinor), Schmidt, D.F. (Daniel), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schumacher, F.R. (Fredrick), Scott, R.J. (Rodney), Senter, L. (Leigha), Sharma, P. (Priyanka), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Soucy, P. (Penny), Southey, M.C. (Melissa), Steinemann, D. (Doris), Stenmark-Askmalm, M. (Marie), Stoppa-Lyonnet, D. (Dominique), Swerdlow, A.J. (Anthony ), Szabo, C. (Csilla), Tamimi, R. (Rulla), Tapper, W. (William), Teixeira, P.J., Teo, S.-H. (Soo-Hwang), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, D. (Deborah), Tihomirova, L. (Laima), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Teulé, A. (A.), Tumino, R. (Rosario), Tung, N. (Nadine), Turnbull, C. (Clare), Ursin, G. (Giski), Deurzen, C.H.M. (Carolien) van, Rensburg, E.J. (Elizabeth) van, Varon-Mateeva, R. (Raymonda), Wang, Z. (Zhaoming), Wang-Gohrke, S. (Shan), Weiderpass, E. (Elisabete), Weitzel, J.N. (Jeffrey), Whittemore, A.S. (Alice S.), Wildiers, H. (Hans), Winqvist, R. (Robert), Yang, X.R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Yao, S. (Song), Zamora, M.P. (Pilar), Zheng, W. (Wei), Hall, P. (Per), Kraft, P. (Peter), Vachon, C. (Celine), Slager, S. (Susan), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Monteiro, A.A.N. (Alvaro A. N.), García-Closas, M. (Montserrat), Easton, D.F. (Douglas F.), and Antoniou, A.C. (Antonis)
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10-8) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negati
Published: 2016
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33. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author: Hollestelle, A. (Antoinette), Baan, F.H. (Frederieke) van der, Berchuck, A. (Andrew), Johnatty, S.E. (Sharon), Aben, K.K.H. (Katja), Agnarsson, B.A. (Bjarni), Aittomäki, K. (Kristiina), Alducci, E. (Elisa), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia), Antoniou, A.C. (Antonis), Apicella, C. (Carmel), Arndt, V. (Volker), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Ashworth, A. (Alan), Baglietto, L. (Laura), Balleine, R. (Rosemary), Bandera, E.V. (Elisa), Barrowdale, D. (Daniel), Bean, Y.T. (Yukie), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berger, A. (Andreas), Berger, R. (Raanan), Beuselinck, B. (B.), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Brooks-Wilson, A. (Angela), Bruinsma, F. (Fiona), Brunet, J. (Joan), Brüning, T. (Thomas), Budzilowska, A. (Agnieszka), Bunker, C.H. (Clareann H.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra S.), Caligo, M.A. (Maria), Campbell, I. (Ian), Carter, J. (Jonathan), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Claes, K.B.M. (Kathleen B.M.), Collée, J.M. (Margriet), Cook, L.S. (Linda S.), Couch, F.J. (Fergus), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, DeFazio, A. (Anna), Dennis, J. (Joe), Devilee, P. (Peter), Dicks, E. (Ed), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Du Bois, A. (Andreas), Dumont, M. (Martine), Dunning, A.M. (Alison), Duran, M. (Mercedes), Easton, D.F. (Douglas F.), Eccles, D. (Diana), Edwards, R. (Robert), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S.D. (Steve), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Fontaine, A. (Annette), Fortuzzi, S. (S.), Fostira, F. (Florentia), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Friel, G. (Grace), Frost, D. (Debra), Garber, J. (Judy), García-Closas, M. (Montserrat), Gayther, S.A. (Simon), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goodman, M.T. (Marc T.), Gore, M. (Martin), Greene, M.H. (Mark H.), Grip, M. (Mervi), Gronwald, J. (Jacek), Gschwantler-Kaulich, D. (Daphne), Guénel, P. (Pascal), Guzman, S.R. (Starr R.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hall, P. (Per), Halverson, S.L. (Sandra L.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Harter, P. (Philipp), Hartikainen, J.M. (J.), Healey, S. (Sue), Hein, R. (Rebecca), Heitz, P.U., Henderson, B.E. (Brian), Herzog, J. (Josef), Hildebrandt, M.A.T. (Michelle), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans), Hopper, J.L. (John), Humphreys, K. (Keith), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska, K. (Katarzyna), Jensen, A. (Allan), Jensen, U.B., Johnson, N. (Nichola), Jukkola-Vuorinen, A. (Arja), Kabisch, M. (Maria), Karlan, B.Y. (Beth Y.), Kataja, V. (Vesa), Kauff, N. (Noah), Kelemen, L.E. (Linda), Kerin, M. (Michael), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Knol-Bout, J.P. (Jacoba P.), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Krakstad, C. (Camilla), Kristensen, V. (Vessela), Kuchenbaecker, K.B. (Karoline), Kupryjanczyk, J. (Jolanta), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lambrechts, S. (Sandrina), Larson, M.C. (Melissa), Lasa, A. (Adriana), Laurent-Puig, P. (Pierre), Lázaro, C. (Conxi), Le, N. (Nhu), Le Marchand, L. (Loic), Leminen, A. (Arto), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Liang, D. (Dong), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lissowska, J. (Jolanta), Long, J. (Jirong), Lu, K.H. (Karen), Lubinski, J. (Jan), Lundvall, L. (Lene), Lurie, G. (Galina), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Margolin, S. (Sara), Mariette, F. (F.), Marme, F. (Federick), Martens, J.W.M. (John), Massuger, L.F. (Leon), Maugard, C., Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McGuire, W.P., McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menegaux, F. (Florence), Menéndez, P. (Primitiva), Menkiszak, J. (Janusz), Menon, U. (Usha), Mensenkamp, A.R. (Arjen), Miller, N. (Nicola), Milne, R.L. (Roger), Modugno, F. (Francesmary), Montagna, M. (Marco), Moysich, K.B. (Kirsten B.), Müller, H. (Heiko), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Narod, S.A. (Steven A.), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta B.), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, F. (Finn), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olson, S.H. (Sara), Oosterwijk, J.C. (Jan), Orlow, I. (Irene), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Ottini, L. (Laura), Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Sokilde), Peissel, B. (Bernard), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa), Perkins, J. (Jo), Permuth-Wey, J. (Jenny), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm C.), Platte, R. (Radka), Plisiecka-Halasa, J. (Joanna), Poole, E.M. (Elizabeth), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Ramus, S.J. (Susan), Rebbeck, R. (Timothy), Reed, M.W.R. (Malcolm W.R.), Rennert, G. (Gad), Risch, H. (Harvey), Robson, M. (Mark), Rodriguez, G. (Gustavo), Romero, A. (Atocha), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salani, R. (Ritu), Salvesen, H.B. (Helga), Sawyer, E.J. (Elinor), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M. (Minouk), Schrauder, A. (André), Schumacher, F.R. (Fredrick), Schwaab, I. (Ira), Scuvera, G. (Giulietta), Sellers, T.A. (Thomas A.), Severi, G. (Gianluca), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Siddiqui, N. (Nadeem), Sieh, W. (Weiva), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Smeets, D. (Dominiek), Sohn, C. (Christof), Soller, M. (Maria), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stegmaier, C. (Christa), Stoppa-Lyonnet, D. (Dominique), Sucheston, L. (Lara), Swerdlow, A.J. (Anthony ), Tangen, I.L. (Ingvild L.), Tea, M.-K., Teixeira, P.J., Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, P.J. (Pamela J.), Tihomirova, L. (Laima), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Tung, N. (Nadine), Tworoger, S. (Shelley), Tyrer, J.P. (Jonathan), Vachon, C. (Celine), Veer, L.J. (Laura) van 't, Altena, A.M. (Anne) van, Asperen, C.J. (Christi) van, Van Den Berg, D. (David), Ouweland, A.M.W. (Ans) van den, Doorn, H.C. (Lena) van, Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vergote, I. (Ignace), Verhoef, S., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vitonis, A.F. (Allison), Wachenfeldt, A. (Anna) von, Walsh, C.S. (Christine), Wang, Q. (Qing), Wang-Gohrke, S. (Shan), Wapenschmidt, B. (Barbara), Weischer, M. (Maren), Weitzel, J.N. (Jeffrey), Weltens, C. (Caroline), Wentzensen, N. (N.), Whittemore, A.S. (Alice S.), Wilkens, L.R. (Lynne R.), Winqvist, R. (Robert), Wu, A.H. (Anna), Wu, X. (Xifeng), Yang, H.P. (Hannah P.), Zaffaroni, D. (Daniela), Zamora, M.P. (Pilar), Zheng, W. (Wei), Ziogas, A. (Argyrios), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Goode, E.L. (Ellen L.), Breast Cancer Family Register, EMBRACE, GENICA Network, HEBON, SWE-BRCA, Hollestelle, A. (Antoinette), Baan, F.H. (Frederieke) van der, Berchuck, A. (Andrew), Johnatty, S.E. (Sharon), Aben, K.K.H. (Katja), Agnarsson, B.A. (Bjarni), Aittomäki, K. (Kristiina), Alducci, E. (Elisa), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia), Antoniou, A.C. (Antonis), Apicella, C. (Carmel), Arndt, V. (Volker), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Ashworth, A. (Alan), Baglietto, L. (Laura), Balleine, R. (Rosemary), Bandera, E.V. (Elisa), Barrowdale, D. (Daniel), Bean, Y.T. (Yukie), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berger, A. (Andreas), Berger, R. (Raanan), Beuselinck, B. (B.), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Brooks-Wilson, A. (Angela), Bruinsma, F. (Fiona), Brunet, J. (Joan), Brüning, T. (Thomas), Budzilowska, A. (Agnieszka), Bunker, C.H. (Clareann H.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra S.), Caligo, M.A. (Maria), Campbell, I. (Ian), Carter, J. (Jonathan), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Claes, K.B.M. (Kathleen B.M.), Collée, J.M. (Margriet), Cook, L.S. (Linda S.), Couch, F.J. (Fergus), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, DeFazio, A. (Anna), Dennis, J. (Joe), Devilee, P. (Peter), Dicks, E. (Ed), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Du Bois, A. (Andreas), Dumont, M. (Martine), Dunning, A.M. (Alison), Duran, M. (Mercedes), Easton, D.F. (Douglas F.), Eccles, D. (Diana), Edwards, R. (Robert), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S.D. (Steve), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Fontaine, A. (Annette), Fortuzzi, S. (S.), Fostira, F. (Florentia), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Friel, G. (Grace), Frost, D. (Debra), Garber, J. (Judy), García-Closas, M. (Montserrat), Gayther, S.A. (Simon), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goodman, M.T. (Marc T.), Gore, M. (Martin), Greene, M.H. (Mark H.), Grip, M. (Mervi), Gronwald, J. (Jacek), Gschwantler-Kaulich, D. (Daphne), Guénel, P. (Pascal), Guzman, S.R. (Starr R.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hall, P. (Per), Halverson, S.L. (Sandra L.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Harter, P. (Philipp), Hartikainen, J.M. (J.), Healey, S. (Sue), Hein, R. (Rebecca), Heitz, P.U., Henderson, B.E. (Brian), Herzog, J. (Josef), Hildebrandt, M.A.T. (Michelle), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans), Hopper, J.L. (John), Humphreys, K. (Keith), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska, K. (Katarzyna), Jensen, A. (Allan), Jensen, U.B., Johnson, N. (Nichola), Jukkola-Vuorinen, A. (Arja), Kabisch, M. (Maria), Karlan, B.Y. (Beth Y.), Kataja, V. (Vesa), Kauff, N. (Noah), Kelemen, L.E. (Linda), Kerin, M. (Michael), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Knol-Bout, J.P. (Jacoba P.), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Krakstad, C. (Camilla), Kristensen, V. (Vessela), Kuchenbaecker, K.B. (Karoline), Kupryjanczyk, J. (Jolanta), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lambrechts, S. (Sandrina), Larson, M.C. (Melissa), Lasa, A. (Adriana), Laurent-Puig, P. (Pierre), Lázaro, C. (Conxi), Le, N. (Nhu), Le Marchand, L. (Loic), Leminen, A. (Arto), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Liang, D. (Dong), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lissowska, J. (Jolanta), Long, J. (Jirong), Lu, K.H. (Karen), Lubinski, J. (Jan), Lundvall, L. (Lene), Lurie, G. (Galina), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Margolin, S. (Sara), Mariette, F. (F.), Marme, F. (Federick), Martens, J.W.M. (John), Massuger, L.F. (Leon), Maugard, C., Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McGuire, W.P., McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menegaux, F. (Florence), Menéndez, P. (Primitiva), Menkiszak, J. (Janusz), Menon, U. (Usha), Mensenkamp, A.R. (Arjen), Miller, N. (Nicola), Milne, R.L. (Roger), Modugno, F. (Francesmary), Montagna, M. (Marco), Moysich, K.B. (Kirsten B.), Müller, H. (Heiko), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Narod, S.A. (Steven A.), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta B.), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, F. (Finn), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olson, S.H. (Sara), Oosterwijk, J.C. (Jan), Orlow, I. (Irene), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Ottini, L. (Laura), Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Sokilde), Peissel, B. (Bernard), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa), Perkins, J. (Jo), Permuth-Wey, J. (Jenny), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm C.), Platte, R. (Radka), Plisiecka-Halasa, J. (Joanna), Poole, E.M. (Elizabeth), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Ramus, S.J. (Susan), Rebbeck, R. (Timothy), Reed, M.W.R. (Malcolm W.R.), Rennert, G. (Gad), Risch, H. (Harvey), Robson, M. (Mark), Rodriguez, G. (Gustavo), Romero, A. (Atocha), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salani, R. (Ritu), Salvesen, H.B. (Helga), Sawyer, E.J. (Elinor), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M. (Minouk), Schrauder, A. (André), Schumacher, F.R. (Fredrick), Schwaab, I. (Ira), Scuvera, G. (Giulietta), Sellers, T.A. (Thomas A.), Severi, G. (Gianluca), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Siddiqui, N. (Nadeem), Sieh, W. (Weiva), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Smeets, D. (Dominiek), Sohn, C. (Christof), Soller, M. (Maria), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stegmaier, C. (Christa), Stoppa-Lyonnet, D. (Dominique), Sucheston, L. (Lara), Swerdlow, A.J. (Anthony ), Tangen, I.L. (Ingvild L.), Tea, M.-K., Teixeira, P.J., Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, P.J. (Pamela J.), Tihomirova, L. (Laima), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Tung, N. (Nadine), Tworoger, S. (Shelley), Tyrer, J.P. (Jonathan), Vachon, C. (Celine), Veer, L.J. (Laura) van 't, Altena, A.M. (Anne) van, Asperen, C.J. (Christi) van, Van Den Berg, D. (David), Ouweland, A.M.W. (Ans) van den, Doorn, H.C. (Lena) van, Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vergote, I. (Ignace), Verhoef, S., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vitonis, A.F. (Allison), Wachenfeldt, A. (Anna) von, Walsh, C.S. (Christine), Wang, Q. (Qing), Wang-Gohrke, S. (Shan), Wapenschmidt, B. (Barbara), Weischer, M. (Maren), Weitzel, J.N. (Jeffrey), Weltens, C. (Caroline), Wentzensen, N. (N.), Whittemore, A.S. (Alice S.), Wilkens, L.R. (Lynne R.), Winqvist, R. (Robert), Wu, A.H. (Anna), Wu, X. (Xifeng), Yang, H.P. (Hannah P.), Zaffaroni, D. (Daniela), Zamora, M.P. (Pilar), Zheng, W. (Wei), Ziogas, A. (Argyrios), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Goode, E.L. (Ellen L.), Breast Cancer Family Register, EMBRACE, GENICA Network, HEBON, and SWE-BRCA
Abstract: Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and br
Published: 2016
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34. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

Author: Glubb, D.M. (Dylan), Maranian, M. (Melanie), Michailidou, K. (Kyriaki), Pooley, K.A. (Karen), Meyer, K.B. (Kerstin), Kar, S. (Siddhartha), Carlebur, A.F.C., O'Reilly, M. (Marian), Betts, J.A. (Joshua), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Beesley, J. (Jonathan), Canisius, S. (Sander), Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Schoot, C.E. (Ellen) van der, Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Pharoah, P.D.P. (Paul D.P.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Surowy, H. (Harald), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Ko, Y.-D. (Yon-Dschun), Brüning, T. (Thomas), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tanaka, H. (Hideo), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Lambrechts, D. (Diether), Zhao, H. (Hui), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Capra, F. (Fabio), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), See, M.-H. (Mee-Hoong), Cornes, B.K. (Belinda), Cheng, C-Y. (Ching-Yu), Ikram, M.K. (Kamran), Kristensen, V. (Vessela), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Czene, K. (Kamila), Klevebring, D. (Daniel), Darabi, H. (Hatef), Eriksson, M. (Mikael), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Hall, P. (Per), Li, J. (Jingmei), Humphreys, K. (Keith), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y.-T. (Yu-Tang), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Shah, M. (Mitul), Ghoussaini, M. (Maya), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Hartman, M. (Mikael), Miao, X., Lim, W.-Y. (Wei-Yen), Tang, A. (Anthony), Hamann, U. (Ute), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Olswold, C. (Curtis), Slager, S. (Susan), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Brown, M. (Melissa), Ponder, B.A.J. (Bruce A.J.), Chenevix-Trench, G. (Georgia), Thompson, D. (Deborah), Edwards, S.L. (Stacey), Easton, D.F. (Douglas), Dunning, A.M. (Alison), French, J.D. (Juliet), Glubb, D.M. (Dylan), Maranian, M. (Melanie), Michailidou, K. (Kyriaki), Pooley, K.A. (Karen), Meyer, K.B. (Kerstin), Kar, S. (Siddhartha), Carlebur, A.F.C., O'Reilly, M. (Marian), Betts, J.A. (Joshua), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Beesley, J. (Jonathan), Canisius, S. (Sander), Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Schoot, C.E. (Ellen) van der, Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Pharoah, P.D.P. (Paul D.P.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Surowy, H. (Harald), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Ko, Y.-D. (Yon-Dschun), Brüning, T. (Thomas), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tanaka, H. (Hideo), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Lambrechts, D. (Diether), Zhao, H. (Hui), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Capra, F. (Fabio), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), See, M.-H. (Mee-Hoong), Cornes, B.K. (Belinda), Cheng, C-Y. (Ching-Yu), Ikram, M.K. (Kamran), Kristensen, V. (Vessela), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Czene, K. (Kamila), Klevebring, D. (Daniel), Darabi, H. (Hatef), Eriksson, M. (Mikael), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Hall, P. (Per), Li, J. (Jingmei), Humphreys, K. (Keith), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y.-T. (Yu-Tang), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Shah, M. (Mitul), Ghoussaini, M. (Maya), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Hartman, M. (Mikael), Miao, X., Lim, W.-Y. (Wei-Yen), Tang, A. (Anthony), Hamann, U. (Ute), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Olswold, C. (Curtis), Slager, S. (Susan), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Brown, M. (Melissa), Ponder, B.A.J. (Bruce A.J.), Chenevix-Trench, G. (Georgia), Thompson, D. (Deborah), Edwards, S.L. (Stacey), Easton, D.F. (Douglas), Dunning, A.M. (Alison), and French, J.D. (Juliet)
Abstract: Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER+: odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21-1.27, ptrend = 5.7 × 10-44) and estrogen-receptor-negative (ER-: OR = 1.10, 95% CI = 1.05-1.15, ptrend = 3.0 × 10-4) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [pcond = 1.61 × 10-5]) and five variants composing iCHAV3 (lead rs11949391; ER+: OR = 0.90, 95% CI = 0.87-0.93, pcond = 1.4 × 10-4). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival.
Published: 2015
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35. Prediction of breast cancer risk based on profiling with common genetic variants

Author: Mavaddat, N. (Nasim), Pharoah, P.D.P. (Paul), Michailidou, K. (Kyriaki), Tyrer, J.P. (Jonathan), Brook, M.N. (Mark N.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune F.), Flyger, H. (Henrik), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Dudbridge, F. (Frank), Johnson, N. (Nichola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Rutgers, E.J. (Emiel J.), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Brinton, L.A. (Louise), Lissowska, J. (Jolanta), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Pankratz, V.S. (Shane), Lambrechts, D. (Diether), Wildiers, H. (Hans), van Ongeval, C. (Chantal), Limbergen, E. (Erik) van, Kristensen, V. (Vessela), Grenaker Alnæs, G. (Grethe), Nord, S. (Silje), Borresen-Dale, A.-L. (Anne-Lise), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen M.), Hunter, D. (David), Lindstrom, S. (Stephen), Tamimi, R. (Rulla), Kraft, P. (Peter), Rahman, N. (Nazneen), Turnbull, C. (Clare), Renwick, A. (Anthony), Seal, S. (Sheila), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Dörk, T. (Thilo), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofyeva, D. (Darya), Takhirova, Z. (Zalina), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Schürmann, P. (Peter), Bremer, M. (Michael), Christiansen, H. (Hans), Park-Simon, T.-W., Hillemanns, P. (Peter), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Hopper, J. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Sigurdson, A.J. (Alice), Doody, M.M. (Michele M.), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Försti, A. (Asta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Chenevix-Trench, G. (Georgia), Balleine, R. (Rosemary), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Lindblom, A. (Annika), Margolin, S. (Sara), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F. (Fredrick), Le Marchand, L. (Loic), Eilber, U. (Ursula), Wang-Gohrke, S. (Shan), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Koppert, L.B. (Linetta), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R.J. (Rodney J.), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Brenner, H. (Hermann), Arndt, V. (Volker), Stegmaier, C. (Christa), Karina Dieffenbach, A. (Aida), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Offit, K. (Kenneth), Vijai, J. (Joseph), Robson, M. (Mark), Rau-Murthy, R. (Rohini), Dwek, M. (Miriam), Swann, R. (Ruth), Perkins, K.A. (Katherine), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Eccles, D. (Diana), Tapper, W. (William), Rafiq, M. (Meena), John, E.M. (Esther M.), Whittemore, A.S. (Alice), Slager, S. (Susan), Yannoukakos, D. (Drakoulis), Toland, A.E. (Amanda), Yao, S. (Song), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), González-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M., Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), Simard, J. (Jacques), Hall, P. (Per), Easton, D.F. (Douglas), García-Closas, M. (Montserrat), Mavaddat, N. (Nasim), Pharoah, P.D.P. (Paul), Michailidou, K. (Kyriaki), Tyrer, J.P. (Jonathan), Brook, M.N. (Mark N.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune F.), Flyger, H. (Henrik), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Dudbridge, F. (Frank), Johnson, N. (Nichola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Rutgers, E.J. (Emiel J.), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Brinton, L.A. (Louise), Lissowska, J. (Jolanta), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Pankratz, V.S. (Shane), Lambrechts, D. (Diether), Wildiers, H. (Hans), van Ongeval, C. (Chantal), Limbergen, E. (Erik) van, Kristensen, V. (Vessela), Grenaker Alnæs, G. (Grethe), Nord, S. (Silje), Borresen-Dale, A.-L. (Anne-Lise), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen M.), Hunter, D. (David), Lindstrom, S. (Stephen), Tamimi, R. (Rulla), Kraft, P. (Peter), Rahman, N. (Nazneen), Turnbull, C. (Clare), Renwick, A. (Anthony), Seal, S. (Sheila), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Dörk, T. (Thilo), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofyeva, D. (Darya), Takhirova, Z. (Zalina), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Schürmann, P. (Peter), Bremer, M. (Michael), Christiansen, H. (Hans), Park-Simon, T.-W., Hillemanns, P. (Peter), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Hopper, J. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Sigurdson, A.J. (Alice), Doody, M.M. (Michele M.), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Försti, A. (Asta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Chenevix-Trench, G. (Georgia), Balleine, R. (Rosemary), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Lindblom, A. (Annika), Margolin, S. (Sara), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F. (Fredrick), Le Marchand, L. (Loic), Eilber, U. (Ursula), Wang-Gohrke, S. (Shan), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Koppert, L.B. (Linetta), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R.J. (Rodney J.), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Brenner, H. (Hermann), Arndt, V. (Volker), Stegmaier, C. (Christa), Karina Dieffenbach, A. (Aida), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Offit, K. (Kenneth), Vijai, J. (Joseph), Robson, M. (Mark), Rau-Murthy, R. (Rohini), Dwek, M. (Miriam), Swann, R. (Ruth), Perkins, K.A. (Katherine), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Eccles, D. (Diana), Tapper, W. (William), Rafiq, M. (Meena), John, E.M. (Esther M.), Whittemore, A.S. (Alice), Slager, S. (Susan), Yannoukakos, D. (Drakoulis), Toland, A.E. (Amanda), Yao, S. (Song), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), González-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M., Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), Simard, J. (Jacques), Hall, P. (Per), Easton, D.F. (Douglas), and García-Closas, M. (Montserrat)
Abstract: Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and construc
Published: 2015
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36. Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy

Author: Lei, J. (Jieping), Rudolph, A. (Anja), Moysich, K.B. (Kirsten), Rafiq, M. (Meena), Behrens, T.W. (Timothy), Goode, E.L. (Ellen), Pharoah, P.D.P. (Paul), Seibold, P. (Petra), Fasching, P.A. (Peter), Andrulis, I.L. (Irene), Kristensen, V. (Vessela), Couch, F.J. (Fergus), Hamann, U. (Ute), Hooning, M.J. (Maartje), Nevanlinna, H. (Heli), Eilber, U. (Ursula), Bolla, M.K. (Manjeet), Dennis, J. (Joe), Wang, Q. (Qing), Lindblom, A. (Annika), Mannermaa, A. (Arto), Lambrechts, D. (Diether), García-Closas, M. (Montserrat), Hall, P. (Per), Chenevix-Trench, G. (Georgia), Shah, M. (Mitul), Luben, R.N. (Robert), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Nord, S. (Silje), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Torres, D. (Diana), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Jager, A. (Agnes), Deurzen, C.H.M. (Carolien) van, Tilanus-Linthorst, M.M.A. (Madeleine), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Margolin, S. (Sara), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Kataja, V. (Vesa), Hatse, S. (Sigrid), Wildiers, H. (Hans), Smeets, A. (Ann), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Li, J. (Jingmei), Humphreys, M.K. (Manjeet), Phillips, K.-A. (Kelly-Anne), Linn, S.C. (Sabine), Cornelissen, S. (Sten), van den Broek, S.A.J. (Sandra Alexandra), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Yoo, K.Y., Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Shen, C-Y. (Chen-Yang), Teo, S.-H. (Soo-Hwang), Taib, N.A.M. (Nur Aishah Mohd), Yip, C.-H. (Cheng-Har), Ho, G.F. (Gwo Fuang), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tajima, K. (Kazuo), Dunning, A.M. (Alison), Benítez, J. (Javier), Czene, K. (Kamila), Sucheston, L. (Lara), Maishman, T. (Tom), Tapper, W. (William), Eccles, D. (Diana), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), Chang-Claude, J. (Jenny), Lei, J. (Jieping), Rudolph, A. (Anja), Moysich, K.B. (Kirsten), Rafiq, M. (Meena), Behrens, T.W. (Timothy), Goode, E.L. (Ellen), Pharoah, P.D.P. (Paul), Seibold, P. (Petra), Fasching, P.A. (Peter), Andrulis, I.L. (Irene), Kristensen, V. (Vessela), Couch, F.J. (Fergus), Hamann, U. (Ute), Hooning, M.J. (Maartje), Nevanlinna, H. (Heli), Eilber, U. (Ursula), Bolla, M.K. (Manjeet), Dennis, J. (Joe), Wang, Q. (Qing), Lindblom, A. (Annika), Mannermaa, A. (Arto), Lambrechts, D. (Diether), García-Closas, M. (Montserrat), Hall, P. (Per), Chenevix-Trench, G. (Georgia), Shah, M. (Mitul), Luben, R.N. (Robert), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Nord, S. (Silje), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Torres, D. (Diana), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Jager, A. (Agnes), Deurzen, C.H.M. (Carolien) van, Tilanus-Linthorst, M.M.A. (Madeleine), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Margolin, S. (Sara), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Kataja, V. (Vesa), Hatse, S. (Sigrid), Wildiers, H. (Hans), Smeets, A. (Ann), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Li, J. (Jingmei), Humphreys, M.K. (Manjeet), Phillips, K.-A. (Kelly-Anne), Linn, S.C. (Sabine), Cornelissen, S. (Sten), van den Broek, S.A.J. (Sandra Alexandra), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Yoo, K.Y., Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Shen, C-Y. (Chen-Yang), Teo, S.-H. (Soo-Hwang), Taib, N.A.M. (Nur Aishah Mohd), Yip, C.-H. (Cheng-Har), Ho, G.F. (Gwo Fuang), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tajima, K. (Kazuo), Dunning, A.M. (Alison), Benítez, J. (Javier), Czene, K. (Kamila), Sucheston, L. (Lara), Maishman, T. (Tom), Tapper, W. (William), Eccles, D. (Diana), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), and Chang-Claude, J. (Jenny)
Abstract: Introduction: Tumor lymphocyte infiltration is associated with clinical response to chemotherapy in estrogen receptor (ER) negative breast cancer. To identify variants in immunosuppressive pathway genes associated with prognosis after adjuvant chemotherapy for ER-negative patients, we studied stage I-III invasive breast cancer patients of European ancestry, including 9,334 ER-positive (3,151 treated with chemotherapy) and 2,334 ER-negative patients (1,499 treated with chemotherapy). Methods: We pooled data from sixteen studies from the Breast Cancer Association Consortium (BCAC), and employed two independent studies for replications. Overall 3,610 single nucleotide polymorphisms (SNPs) in 133 genes were genotyped as part of the Collaborative Oncological Gene-environment Study, in which phenotype and clinical data were collected and harmonized. Multivariable Cox proportional hazard regression was used to assess genetic associations with overall survival (OS) and breast c
Published: 2015
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37. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Author: Blein, S. (Sophie), Bardel, C. (Claire), Danjean, V. (Vincent), McGuffog, L. (Lesley), Healey, S. (Sue), Barrowdale, D. (Daniel), Lee, A. (Andrew), Dennis, J. (Joe), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Terry, M.B. (Mary Beth), Chung, W. (Wendy), Goldgar, D. (David), Buys, S.S. (Saundra), Janavicius, R. (Ramunas), Tihomirova, L. (Laima), Tung, N. (Nadine), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Gerdes, A-M. (Anne-Marie), Ejlertsen, B. (Bent), Nielsen, F. (Finn), Hansen, T.V.O. (Thomas), Osorio, A. (Ana), Benítez, J. (Javier), Conejero, R.A. (Raquel Andrés), Segota, E. (Ena), Weitzel, J.N. (Jeffrey), Thelander, M. (Margo), Peterlongo, P. (Paolo), Radice, P. (Paolo), Pensotti, V. (Valeria), Dolcetti, R. (Riccardo), Bonnani, B. (Bernardo), Peissel, B. (Bernard), Zaffaroni, D. (D.), Scuvera, G. (Giulietta), Manoukian, S. (Siranoush), Varesco, L. (Liliana), Capone, G.L. (Gabriele L.), Papi, L. (Laura), Ottini, L. (Laura), Yannoukakos, D. (Drakoulis), Konstantopoulou, I. (I.), Garber, J. (Judy), Hamann, U. (Ute), Donaldson, A. (Alan), Brady, A. (A.), Brewer, C. (Carole), Foo, C. (Claire), Evans, D.G. (Gareth), Frost, D. (Debra), Eccles, D. (Diana), Douglas, F. (Fiona), Cook, J. (Jackie), Adlard, L., Barwell, J. (Julian), Walker, L.J. (Lisa), Izatt, L. (Louise), Side, L. (Lucy), Kennedy, M.J. (John), Tischkowitz, M. (Marc), Rogers, M.T. (Mark), Porteous, M.E. (Mary), Morrison, P.J. (Patrick), Platte, R. (Radka), Eeles, R. (Ros), Davidson, R. (Rosemarie), Hodgson, S. (Shirley), Cole, T.J. (Trevor), Godwin, A.K. (Andrew), Isaacs, C. (Claudine), Claes, K.B.M. (Kathleen B.M.), De Leeneer, K. (Kim), Meindl, A. (Alfons), Gehrig, P.A. (Paola A.), Wapenschmidt, B. (Barbara), Sutter, C. (Christian), Engel, C. (Christoph), Niederacher, D. (Dieter), Steinemann, D. (Doris), Plendl, H. (Hansjoerg), Kast, K. (Karin), Rhiem, K. (Kerstin), Ditsch, N. (Nina), Arnold, N. (Norbert), Varon-Mateeva, R. (Raymonda), Schmutzler, R.K. (Rita), Preisler-Adams, S. (Sabine), Markov, N.B. (Nadja Bogdanova), Wang-Gohrke, S. (Shan), Pauw, A. (Antoine) de, Lefol, C. (Cédrick), Lasset, C. (Christine), Leroux, D. (Dominique), Rouleau, E. (Etienne), Damiola, F. (Francesca), Dreyfus, H. (Hélène), Barjhoux, L. (Laure), Golmard, L. (Lisa), Uhrhammer, N. (Nancy), Bonadona, V. (Valérie), Sornin, V. (Valérie), Bignon, Y.-J. (Yves-Jean), Carter, J. (Jonathan), Le, L. (Linda) van, Piedmonte, M. (Marion), DiSilvestro, P. (Paul), Hoya, M. (Miguel) de La, Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Jager, A. (Agnes), Ouweland, A.M.W. (Ans) van den, Kets, C.M. (Marleen), Aalfs, C.M. (Cora), Leeuwen, F.E. (Flora) van, Hogervorst, F.B.L. (Frans), Meijers-Heijboer, E.J. (Hanne), Oosterwijk, J.C. (Jan), Roozendaal, K.E. (Kees) van, Rookus, M.A. (M.), Devilee, P. (Peter), Luijt, R.B. (Rob) van der, Olah, E., Díez, O. (Orland), Teulé, A. (A.), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Del Valle, J. (Jesús), Jakubowska, A. (Anna), Sukiennicki, G. (Grzegorz), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska-Bieniek, K. (Katarzyna), Agnarsson, B.A. (Bjarni), Maugard, C., Amadori, A. (Alberto), Montagna, M. (Marco), Teixeira, P.J., Spurdle, A.B. (Amanda), Foulkes, W.D. (William), Olswold, C. (Curtis), Lindor, N.M. (Noralane), Pankratz, V.S. (Shane), Szabo, C. (Csilla), Lincoln, A. (Anne), Jacobs, L. (Lauren), Corines, M. (Marina), Robson, M. (Mark), Vijai, J. (Joseph), Berger, A. (Andreas), Fink-Retter, A. (Anneliese), Singer, C.F. (Christian), Rappaport, C. (Christine), Kaulich, D.G. (Daphne Gschwantler), Pfeiler, G. (Georg), Tea, M.-K., Greene, M.H. (Mark), Mai, P.L. (Phuong), Rennert, G. (Gad), Imyanitov, E.N. (Evgeny), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Andrulis, I.L. (Irene), Tchatchou, S. (Sandrine), Toland, A.E. (Amanda), Pedersen, I.S. (Inge Sokilde), Thomassen, M. (Mads), Kruse, T.A. (Torben), Jensen, U.B., Caligo, M.A. (Maria), Friedman, E. (Eitan), Zidan, J. (Jamal), Laitman, Y. (Yael), Lindblom, A. (Annika), Melin, B. (Beatrice), Arver, B. (Brita Wasteson), Loman, N. (Niklas), Rosenquist, R. (R.), Olopade, O.I. (Olofunmilayo), Nussbaum, R. (Robert), Ramus, S.J. (Susan), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Arun, B.K. (Banu), Mitchell, G. (Gillian), Karlan, B.Y. (Beth), Lester, K.J. (Kathryn), Orsulic, S. (Sandra), Stoppa-Lyonnet, D. (Dominique), Thomas, G. (Gilles), Simard, J. (Jacques), Couch, F.J. (Fergus), Offit, K. (Kenneth), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Mazoyer, S. (Sylvie), Phelan, C. (Catherine), Sinilnikova, O. (Olga), Cox, D.G. (David), Blein, S. (Sophie), Bardel, C. (Claire), Danjean, V. (Vincent), McGuffog, L. (Lesley), Healey, S. (Sue), Barrowdale, D. (Daniel), Lee, A. (Andrew), Dennis, J. (Joe), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Terry, M.B. (Mary Beth), Chung, W. (Wendy), Goldgar, D. (David), Buys, S.S. (Saundra), Janavicius, R. (Ramunas), Tihomirova, L. (Laima), Tung, N. (Nadine), Dorfling, C.M. (Cecilia), Rensburg, E.J. (Elizabeth) van, Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Gerdes, A-M. (Anne-Marie), Ejlertsen, B. (Bent), Nielsen, F. (Finn), Hansen, T.V.O. (Thomas), Osorio, A. (Ana), Benítez, J. (Javier), Conejero, R.A. (Raquel Andrés), Segota, E. (Ena), Weitzel, J.N. (Jeffrey), Thelander, M. (Margo), Peterlongo, P. (Paolo), Radice, P. (Paolo), Pensotti, V. (Valeria), Dolcetti, R. (Riccardo), Bonnani, B. (Bernardo), Peissel, B. (Bernard), Zaffaroni, D. (D.), Scuvera, G. (Giulietta), Manoukian, S. (Siranoush), Varesco, L. (Liliana), Capone, G.L. (Gabriele L.), Papi, L. (Laura), Ottini, L. (Laura), Yannoukakos, D. (Drakoulis), Konstantopoulou, I. (I.), Garber, J. (Judy), Hamann, U. (Ute), Donaldson, A. (Alan), Brady, A. (A.), Brewer, C. (Carole), Foo, C. (Claire), Evans, D.G. (Gareth), Frost, D. (Debra), Eccles, D. (Diana), Douglas, F. (Fiona), Cook, J. (Jackie), Adlard, L., Barwell, J. (Julian), Walker, L.J. (Lisa), Izatt, L. (Louise), Side, L. (Lucy), Kennedy, M.J. (John), Tischkowitz, M. (Marc), Rogers, M.T. (Mark), Porteous, M.E. (Mary), Morrison, P.J. (Patrick), Platte, R. (Radka), Eeles, R. (Ros), Davidson, R. (Rosemarie), Hodgson, S. (Shirley), Cole, T.J. (Trevor), Godwin, A.K. (Andrew), Isaacs, C. (Claudine), Claes, K.B.M. (Kathleen B.M.), De Leeneer, K. (Kim), Meindl, A. (Alfons), Gehrig, P.A. (Paola A.), Wapenschmidt, B. (Barbara), Sutter, C. (Christian), Engel, C. (Christoph), Niederacher, D. (Dieter), Steinemann, D. (Doris), Plendl, H. (Hansjoerg), Kast, K. (Karin), Rhiem, K. (Kerstin), Ditsch, N. (Nina), Arnold, N. (Norbert), Varon-Mateeva, R. (Raymonda), Schmutzler, R.K. (Rita), Preisler-Adams, S. (Sabine), Markov, N.B. (Nadja Bogdanova), Wang-Gohrke, S. (Shan), Pauw, A. (Antoine) de, Lefol, C. (Cédrick), Lasset, C. (Christine), Leroux, D. (Dominique), Rouleau, E. (Etienne), Damiola, F. (Francesca), Dreyfus, H. (Hélène), Barjhoux, L. (Laure), Golmard, L. (Lisa), Uhrhammer, N. (Nancy), Bonadona, V. (Valérie), Sornin, V. (Valérie), Bignon, Y.-J. (Yves-Jean), Carter, J. (Jonathan), Le, L. (Linda) van, Piedmonte, M. (Marion), DiSilvestro, P. (Paul), Hoya, M. (Miguel) de La, Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Jager, A. (Agnes), Ouweland, A.M.W. (Ans) van den, Kets, C.M. (Marleen), Aalfs, C.M. (Cora), Leeuwen, F.E. (Flora) van, Hogervorst, F.B.L. (Frans), Meijers-Heijboer, E.J. (Hanne), Oosterwijk, J.C. (Jan), Roozendaal, K.E. (Kees) van, Rookus, M.A. (M.), Devilee, P. (Peter), Luijt, R.B. (Rob) van der, Olah, E., Díez, O. (Orland), Teulé, A. (A.), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Del Valle, J. (Jesús), Jakubowska, A. (Anna), Sukiennicki, G. (Grzegorz), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska-Bieniek, K. (Katarzyna), Agnarsson, B.A. (Bjarni), Maugard, C., Amadori, A. (Alberto), Montagna, M. (Marco), Teixeira, P.J., Spurdle, A.B. (Amanda), Foulkes, W.D. (William), Olswold, C. (Curtis), Lindor, N.M. (Noralane), Pankratz, V.S. (Shane), Szabo, C. (Csilla), Lincoln, A. (Anne), Jacobs, L. (Lauren), Corines, M. (Marina), Robson, M. (Mark), Vijai, J. (Joseph), Berger, A. (Andreas), Fink-Retter, A. (Anneliese), Singer, C.F. (Christian), Rappaport, C. (Christine), Kaulich, D.G. (Daphne Gschwantler), Pfeiler, G. (Georg), Tea, M.-K., Greene, M.H. (Mark), Mai, P.L. (Phuong), Rennert, G. (Gad), Imyanitov, E.N. (Evgeny), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Andrulis, I.L. (Irene), Tchatchou, S. (Sandrine), Toland, A.E. (Amanda), Pedersen, I.S. (Inge Sokilde), Thomassen, M. (Mads), Kruse, T.A. (Torben), Jensen, U.B., Caligo, M.A. (Maria), Friedman, E. (Eitan), Zidan, J. (Jamal), Laitman, Y. (Yael), Lindblom, A. (Annika), Melin, B. (Beatrice), Arver, B. (Brita Wasteson), Loman, N. (Niklas), Rosenquist, R. (R.), Olopade, O.I. (Olofunmilayo), Nussbaum, R. (Robert), Ramus, S.J. (Susan), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Arun, B.K. (Banu), Mitchell, G. (Gillian), Karlan, B.Y. (Beth), Lester, K.J. (Kathryn), Orsulic, S. (Sandra), Stoppa-Lyonnet, D. (Dominique), Thomas, G. (Gilles), Simard, J. (Jacques), Couch, F.J. (Fergus), Offit, K. (Kenneth), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Mazoyer, S. (Sylvie), Phelan, C. (Catherine), Sinilnikova, O. (Olga), and Cox, D.G. (David)
Abstract: Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. Methods: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. Results: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. Conclusion
Published: 2015
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38. Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

Author: Darabi, H. (Hatef), McCue, K. (Karen), Beesley, J. (Jonathan), Michailidou, K. (Kyriaki), Nord, S. (Silje), Kar, S. (Siddhartha), Humphreys, K. (Keith), Thompson, D. (Deborah), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Dennis, J. (Joe), Wang, Q. (Qing), Canisius, S. (Sander), Scott, C.G. (Christopher G.), Apicella, C. (Carmel), Hopper, J. (John), Southey, M.C. (Melissa), Stone, J. (Jennifer), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Scott, R.J. (Rodney J.), Lophatananon, A. (Artitaya), Muir, K.R. (K.), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Fasching, P.A. (Peter), Heusinger, K. (Katharina), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Tomlinson, I.P. (Ian), Sawyer, E.J. (Elinor), Burwinkel, B. (Barbara), Marme, F. (Federick), Guénel, P. (Pascal), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Benítez, J. (Javier), González-Neira, A. (Anna), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Arndt, V. (Volker), Brenner, H. (Hermann), Engel, C. (Christoph), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Arnold, N. (Norbert), Brauch, H. (Hiltrud), Hamann, U. (Ute), Chang-Claude, J. (Jenny), Khan, S. (Sofia), Nevanlinna, H. (Heli), Ito, H. (Hidemi), Matsuo, K. (Keitaro), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Kosma, V-M. (Veli-Matti), Mannermaa, A. (Arto), Tseng, C.-C. (Chiu-chen), Wu, A.H. (Anna H.), Floris, O.A.M., Lambrechts, D. (Diether), Rudolph, A. (Anja), Peterlongo, P. (Paolo), Radice, P. (Paolo), Couch, F.J. (Fergus), Vachon, C. (Celine), Giles, G.G. (Graham G.), McLean, C.A. (Catriona Ann), Milne, R.L. (Roger L.), Dugué, P.-A. (Pierre-Antoine), Haiman, C.A. (Christopher), Maskarinec, G. (Gertraud), Woolcott, C. (Christy), Henderson, B.E. (Brian), Goldberg, M.S. (Mark), Simard, J. (Jacques), Teo, S.-H. (Soo-Hwang), Mariapun, S. (Shivaani), Helland, Å. (Åslaug), Haakensen, V. (Vilde), Zheng, W. (Wei), Beeghly-Fadiel, A. (Alicia), Tamimi, R. (Rulla), Jukkola-Vuorinen, A. (Arja), Winqvist, R. (Robert), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Czene, K. (Kamila), Hooning, M.J. (Maartje), Tilanus-Linthorst, M.M.A. (Madeleine), Li, J. (J.), Gao, Y.-T. (Yu-Tang), Shu, X.-O. (Xiao-Ou), Cox, A. (Angela), Cross, S.S. (Simon), Luben, R.N. (Robert), Khaw, K.T., Choi, J.-Y. (J.), Kang, D. (Daehee), Hartman, J.M. (Joost), Lim, W.-Y. (Wei-Yen), Kabisch, M. (Maria), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), McKay, J.D. (James), Sangrajrang, S. (Suleeporn), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Ziogas, A. (Argyrios), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Borresen-Dale, A.-L. (Anne-Lise), Kristensen, V. (Vessela), French, J.D. (Juliet), Edwards, S.L. (Stacey), Dunning, A.M. (Alison), Easton, D.F. (Douglas), Hall, P. (Per), Chenevix-Trench, G. (Georgia), Darabi, H. (Hatef), McCue, K. (Karen), Beesley, J. (Jonathan), Michailidou, K. (Kyriaki), Nord, S. (Silje), Kar, S. (Siddhartha), Humphreys, K. (Keith), Thompson, D. (Deborah), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Dennis, J. (Joe), Wang, Q. (Qing), Canisius, S. (Sander), Scott, C.G. (Christopher G.), Apicella, C. (Carmel), Hopper, J. (John), Southey, M.C. (Melissa), Stone, J. (Jennifer), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Scott, R.J. (Rodney J.), Lophatananon, A. (Artitaya), Muir, K.R. (K.), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Fasching, P.A. (Peter), Heusinger, K. (Katharina), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Tomlinson, I.P. (Ian), Sawyer, E.J. (Elinor), Burwinkel, B. (Barbara), Marme, F. (Federick), Guénel, P. (Pascal), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Benítez, J. (Javier), González-Neira, A. (Anna), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Arndt, V. (Volker), Brenner, H. (Hermann), Engel, C. (Christoph), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Arnold, N. (Norbert), Brauch, H. (Hiltrud), Hamann, U. (Ute), Chang-Claude, J. (Jenny), Khan, S. (Sofia), Nevanlinna, H. (Heli), Ito, H. (Hidemi), Matsuo, K. (Keitaro), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Kosma, V-M. (Veli-Matti), Mannermaa, A. (Arto), Tseng, C.-C. (Chiu-chen), Wu, A.H. (Anna H.), Floris, O.A.M., Lambrechts, D. (Diether), Rudolph, A. (Anja), Peterlongo, P. (Paolo), Radice, P. (Paolo), Couch, F.J. (Fergus), Vachon, C. (Celine), Giles, G.G. (Graham G.), McLean, C.A. (Catriona Ann), Milne, R.L. (Roger L.), Dugué, P.-A. (Pierre-Antoine), Haiman, C.A. (Christopher), Maskarinec, G. (Gertraud), Woolcott, C. (Christy), Henderson, B.E. (Brian), Goldberg, M.S. (Mark), Simard, J. (Jacques), Teo, S.-H. (Soo-Hwang), Mariapun, S. (Shivaani), Helland, Å. (Åslaug), Haakensen, V. (Vilde), Zheng, W. (Wei), Beeghly-Fadiel, A. (Alicia), Tamimi, R. (Rulla), Jukkola-Vuorinen, A. (Arja), Winqvist, R. (Robert), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Czene, K. (Kamila), Hooning, M.J. (Maartje), Tilanus-Linthorst, M.M.A. (Madeleine), Li, J. (J.), Gao, Y.-T. (Yu-Tang), Shu, X.-O. (Xiao-Ou), Cox, A. (Angela), Cross, S.S. (Simon), Luben, R.N. (Robert), Khaw, K.T., Choi, J.-Y. (J.), Kang, D. (Daehee), Hartman, J.M. (Joost), Lim, W.-Y. (Wei-Yen), Kabisch, M. (Maria), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), McKay, J.D. (James), Sangrajrang, S. (Suleeporn), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Ziogas, A. (Argyrios), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Borresen-Dale, A.-L. (Anne-Lise), Kristensen, V. (Vessela), French, J.D. (Juliet), Edwards, S.L. (Stacey), Dunning, A.M. (Alison), Easton, D.F. (Douglas), Hall, P. (Per), and Chenevix-Trench, G. (Georgia)
Abstract: Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped the association signal by genotyping 428 SNPs across the region in 89,050 European and 12,893 Asian case and control subjects from the Breast Cancer Association Consortium. We identified four independent sets of correlated, highly trait-associated variants (iCHAVs), three of which were located within ZNF365. The most strongly risk-associated SNP, rs10995201 in iCHAV1, showed clear evidence of association with both estrogen receptor (ER)-positive (OR = 0.85 [0.82-0.88]) and ER-negative (OR = 0.87 [0.82-0.91]) disease, and was also the SNP most strongly associated with percent mammographic density. iCHAV2 (lead SNP, chr10: 64,258,684:D) and iCHAV3 (lead SNP, rs7922449) were also associated with ER-positive (OR = 0.93 [0.91-0.95] and OR = 1.06 [1.03-1.09]) and ER-negative (OR = 0.95 [0.91-0.98] and OR = 1.08 [1.04-1.13]) disease. There was weaker evidence for iCHAV4, located 5′ of ADO, associated only with ER-positive breast cancer (OR = 0.93 [0.90-0.96]). We found 12, 17, 18, and 2 candidate causal SNPs for breast cancer in iCHAVs 1-4, respectively. Chrom
Published: 2015
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39. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), Easton, D.F. (Douglas), Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), and Easton, D.F. (Douglas)
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10 â '8. Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015
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40. Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk

Author: Guo, X. (Xingyi), Long, J. (Jirong), Zeng, C. (Chenjie), Michailidou, K. (Kyriaki), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Milne, R.L. (Roger L.), Shu, X.-O. (Xiao-Ou), Cai, Q. (Qiuyin), Beesley, J. (Jonathan), Kar, S. (Siddhartha), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Broekss, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, H. (Hui), Canisius, S. (Sander), Chang-Claude, J. (Jenny), Choi, J.-Y. (J.), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Droit, A. (Arnaud), Dörk, T. (Thilo), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gaborieau, V. (Valerie), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Grip, M. (Mervi), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hartman, J.M. (Joost), Hollestelle, A. (Antoinette), Hopper, J.L. (John L.), Hsiung, C.-N. (Chia-Ni), Ito, H. (Hidemi), Jakubowska, A. (Anna), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Khan, S. (Sofia), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Matsuo, K. (Keitaro), McLean, C.A. (Catriona Ann), Meindl, A. (Alfons), Muir, K. (Kenneth), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Olson, J.E. (Janet), Orr, N. (Nick), Peterlongo, P. (Paolo), Putti, T.C. (Thomas Choudary), Rudolph, A. (Anja), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Shen, C-Y. (Chen-Yang), Shi, J. (Jiajun), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo Hwang), Thienpont, B. (Bernard), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-chen), Ouweland, A.M.W. (Ans) van den, Wen, W. (Wanqing), Winqvist, R. (Robert), Wu, A. (Anna), Yip, C.H. (Cheng Har), Zamora, M.P. (Pilar), Zheng, Y. (Ying), Hall, P. (Per), Pharoah, P.D.P. (Paul), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Easton, D.F. (Douglas F.), Zheng, W. (Wei), Eeles, R. (Rosalind), Al Olama, A.A. (Ali Amin), Kote-Jarai, Z., Benlloch, S. (Sara), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Offit, K. (Kenneth), Lee, A. (Andrew), Dicks, E. (Ed), Luccarini, C. (Craig), Tessier, D.C. (Daniel C.), Bacot, F. (Francois), Vincent, D. (Daniel), La Boissière, S. (Sylvie), Robidoux, F. (Frederic), Nielsen, S.F. (Sune), Cunningham, J.M. (Julie), Windebank, S.A. (Sharon A.), Hilker, C.A. (Christopher A.), Meyer, J. (Jeffrey), Angelakos, M. (Maggie), Maskiell, J. (Judi), Rutgers, E.J. (Emiel J.), Verhoef, S., Hogervorst, F.B.L. (Frans), Boonyawongviroj, P. (Prat), Siriwanarungsan, P. (Pornthep), Schrauder, A. (André), Rübner, M. (Matthias), Oeser, S. (Sonja), Landrith, S. (Silke), Williams, E. (Eileen), Ryder-Mills, E. (Elaine), Sargus, K. (Kara), McInerney, N. (Niall), Colleran, G. (Gabrielle), Rowan, A. (Andrew), Jones, A. (Angela), Sohn, C. (Christof), Schneeweiß, A. (Andeas), Bugert, P. (Peter), Álvarez, N. (Nuria), Bernstein, L. (Leslie), Lacey, J. (James), Wang, S. (Sophia), Ma, H. (Huiyan), Lu, Y. (Yani), Clague De Hart, J. (Jessica), Deapen, D. (Dennis), Pinder, R. (Rich), Lee, E. (Eunjung), Schumacher, F.R. (Fredrick), Horn-Ross, P. (Pam), Reynolds, P. (Peggy), Nelson, D. (David), Park, H. (Hannah), Ziegler, H. (Hartwig), Wolf, S. (Sonja), Hermann, V. (Volker), Lo, W.-Y. (Wing-Yee), Justenhoven, C. (Christina), Ko, Y.-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P. (Hans-Peter), Pesch, B. (Beate), Rabstein, S. (Sylvia), Lotz, A. (Anne), Harth, V. (Volker), Heikkinen, T. (Tuomas), Erkkilä, I. (Irja), Aaltonen, K. (Kirsimari), Smitten, K. (Karl) von, Antonenkova, N.N. (Natalia), Hillemanns, P. (Peter), Christiansen, H. (Hans), Myöhänen, E. (Eija), Kemiläinen, H. (Helena), Thorne, H. (Heather), Niedermayr, E. (Eveline), Bowtell, D., De Fazio, A. (Anna), Gertig, D., Green, A., Webb, P. (Penny), Parsons, P., Hayward, N., Webb, P.M. (P.), Whiteman, D., Fung, A. (Annie), Yashiki, J. (June), Peuteman, G. (Gilian), Smeets, D. (Dominiek), Van Brussel, T. (Thomas), Corthouts, K. (Kathleen), Obi, N. (Nadia), Heinz, J. (Judith), Behrens, T.W. (Timothy), Eilber, U. (Ursula), Celik, M. (Muhabbet), Olchers, T. (Til), Peissel, B. (Bernard), Scuvera, G. (Giulietta), Zaffaroni, D. (Daniela), Bonnani, B. (Bernardo), Feroce, I. (Irene), Maniscalco, A. (Angela), Rossi, A. (Alessandra), Bernard, L. (Loris), Tranchant, M. (Martine), Valois, M.-F. (Marie-France), Turgeon, A. (Annie), Heguy, L. (Lea), Yee, P.S. (Phuah Sze), Kang, P. (Peter), Nee, K.I. (Kang In), Mariapun, S. (Shivaani), Sook-Yee, Y. (Yoon), Lee, D.S.C. (Daphne S.C.), Ching, T.Y. (Teh Yew), Taib, N.A.M. (Nur Aishah Mohd), Otsukka, M. (Meeri), Mononen, K. (Kari), Selander, T. (Teresa), Weerasooriya, N. (Nayana), Krol-Warmerdam, E.M.M. (Elly), Molenaar, J., Blom, J., Szeszenia-Dabrowska, N. (Neonilia), Peplonska, B. (Beata), Zatonski, W. (Witold), Chao, P. (Pei), Stagner, M. (Michael), Bos, P. (Petra), Blom, J. (Jannet), Crepin, E. (Ellen), Nieuwlaat, A. (Anja), Heemskerk, A. (Annette), Higham, S. (Sue), Cramp, H.E. (Helen), Connley, D. (Daniel), Balasubramanian, S. (Sabapathy), Brock, I.W. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Kerbrat, P. (Pierre), Arveux, P. (Patrick), Le Scodan, R. (Romuald), Raoul, Y. (Yves), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Stegmaier, C. (Christa), Butterbach, K. (Katja), Karstens, J.H. (Johann), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Vrieling, A. (Alina), Nickels, S. (Stefan), Radice, P. (Paolo), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Conroy, D. (Don), Baynes, C. (Caroline), Chua, K. (Kimberley), Pilarski, R. (Robert), Guo, X. (Xingyi), Long, J. (Jirong), Zeng, C. (Chenjie), Michailidou, K. (Kyriaki), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Milne, R.L. (Roger L.), Shu, X.-O. (Xiao-Ou), Cai, Q. (Qiuyin), Beesley, J. (Jonathan), Kar, S. (Siddhartha), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Broekss, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, H. (Hui), Canisius, S. (Sander), Chang-Claude, J. (Jenny), Choi, J.-Y. (J.), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Droit, A. (Arnaud), Dörk, T. (Thilo), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gaborieau, V. (Valerie), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Grip, M. (Mervi), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hartman, J.M. (Joost), Hollestelle, A. (Antoinette), Hopper, J.L. (John L.), Hsiung, C.-N. (Chia-Ni), Ito, H. (Hidemi), Jakubowska, A. (Anna), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Khan, S. (Sofia), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Matsuo, K. (Keitaro), McLean, C.A. (Catriona Ann), Meindl, A. (Alfons), Muir, K. (Kenneth), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Olson, J.E. (Janet), Orr, N. (Nick), Peterlongo, P. (Paolo), Putti, T.C. (Thomas Choudary), Rudolph, A. (Anja), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Shen, C-Y. (Chen-Yang), Shi, J. (Jiajun), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo Hwang), Thienpont, B. (Bernard), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-chen), Ouweland, A.M.W. (Ans) van den, Wen, W. (Wanqing), Winqvist, R. (Robert), Wu, A. (Anna), Yip, C.H. (Cheng Har), Zamora, M.P. (Pilar), Zheng, Y. (Ying), Hall, P. (Per), Pharoah, P.D.P. (Paul), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Easton, D.F. (Douglas F.), Zheng, W. (Wei), Eeles, R. (Rosalind), Al Olama, A.A. (Ali Amin), Kote-Jarai, Z., Benlloch, S. (Sara), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Offit, K. (Kenneth), Lee, A. (Andrew), Dicks, E. (Ed), Luccarini, C. (Craig), Tessier, D.C. (Daniel C.), Bacot, F. (Francois), Vincent, D. (Daniel), La Boissière, S. (Sylvie), Robidoux, F. (Frederic), Nielsen, S.F. (Sune), Cunningham, J.M. (Julie), Windebank, S.A. (Sharon A.), Hilker, C.A. (Christopher A.), Meyer, J. (Jeffrey), Angelakos, M. (Maggie), Maskiell, J. (Judi), Rutgers, E.J. (Emiel J.), Verhoef, S., Hogervorst, F.B.L. (Frans), Boonyawongviroj, P. (Prat), Siriwanarungsan, P. (Pornthep), Schrauder, A. (André), Rübner, M. (Matthias), Oeser, S. (Sonja), Landrith, S. (Silke), Williams, E. (Eileen), Ryder-Mills, E. (Elaine), Sargus, K. (Kara), McInerney, N. (Niall), Colleran, G. (Gabrielle), Rowan, A. (Andrew), Jones, A. (Angela), Sohn, C. (Christof), Schneeweiß, A. (Andeas), Bugert, P. (Peter), Álvarez, N. (Nuria), Bernstein, L. (Leslie), Lacey, J. (James), Wang, S. (Sophia), Ma, H. (Huiyan), Lu, Y. (Yani), Clague De Hart, J. (Jessica), Deapen, D. (Dennis), Pinder, R. (Rich), Lee, E. (Eunjung), Schumacher, F.R. (Fredrick), Horn-Ross, P. (Pam), Reynolds, P. (Peggy), Nelson, D. (David), Park, H. (Hannah), Ziegler, H. (Hartwig), Wolf, S. (Sonja), Hermann, V. (Volker), Lo, W.-Y. (Wing-Yee), Justenhoven, C. (Christina), Ko, Y.-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P. (Hans-Peter), Pesch, B. (Beate), Rabstein, S. (Sylvia), Lotz, A. (Anne), Harth, V. (Volker), Heikkinen, T. (Tuomas), Erkkilä, I. (Irja), Aaltonen, K. (Kirsimari), Smitten, K. (Karl) von, Antonenkova, N.N. (Natalia), Hillemanns, P. (Peter), Christiansen, H. (Hans), Myöhänen, E. (Eija), Kemiläinen, H. (Helena), Thorne, H. (Heather), Niedermayr, E. (Eveline), Bowtell, D., De Fazio, A. (Anna), Gertig, D., Green, A., Webb, P. (Penny), Parsons, P., Hayward, N., Webb, P.M. (P.), Whiteman, D., Fung, A. (Annie), Yashiki, J. (June), Peuteman, G. (Gilian), Smeets, D. (Dominiek), Van Brussel, T. (Thomas), Corthouts, K. (Kathleen), Obi, N. (Nadia), Heinz, J. (Judith), Behrens, T.W. (Timothy), Eilber, U. (Ursula), Celik, M. (Muhabbet), Olchers, T. (Til), Peissel, B. (Bernard), Scuvera, G. (Giulietta), Zaffaroni, D. (Daniela), Bonnani, B. (Bernardo), Feroce, I. (Irene), Maniscalco, A. (Angela), Rossi, A. (Alessandra), Bernard, L. (Loris), Tranchant, M. (Martine), Valois, M.-F. (Marie-France), Turgeon, A. (Annie), Heguy, L. (Lea), Yee, P.S. (Phuah Sze), Kang, P. (Peter), Nee, K.I. (Kang In), Mariapun, S. (Shivaani), Sook-Yee, Y. (Yoon), Lee, D.S.C. (Daphne S.C.), Ching, T.Y. (Teh Yew), Taib, N.A.M. (Nur Aishah Mohd), Otsukka, M. (Meeri), Mononen, K. (Kari), Selander, T. (Teresa), Weerasooriya, N. (Nayana), Krol-Warmerdam, E.M.M. (Elly), Molenaar, J., Blom, J., Szeszenia-Dabrowska, N. (Neonilia), Peplonska, B. (Beata), Zatonski, W. (Witold), Chao, P. (Pei), Stagner, M. (Michael), Bos, P. (Petra), Blom, J. (Jannet), Crepin, E. (Ellen), Nieuwlaat, A. (Anja), Heemskerk, A. (Annette), Higham, S. (Sue), Cramp, H.E. (Helen), Connley, D. (Daniel), Balasubramanian, S. (Sabapathy), Brock, I.W. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Kerbrat, P. (Pierre), Arveux, P. (Patrick), Le Scodan, R. (Romuald), Raoul, Y. (Yves), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Stegmaier, C. (Christa), Butterbach, K. (Katja), Karstens, J.H. (Johann), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Vrieling, A. (Alina), Nickels, S. (Stefan), Radice, P. (Paolo), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Conroy, D. (Don), Baynes, C. (Caroline), Chua, K. (Kimberley), and Pilarski, R. (Robert)
Abstract: Background: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. Methods: We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium. Results: Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P=2.51 × 10-4; OR, 1.04; 95% confidence interval (CI), 1.02-1.07] and rs77928427 (P=1.86 × 10-4; OR, 1.04; 95% CI, 1.02-1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r2≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor-binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue. Conclusion: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. Impact: Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk.
Published: 2015
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41. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

Author: Johnson, N. (Nichola), Dudbridge, F. (Frank), Orr, N. (Nick), Gibson, L.J. (Lorna), Jones, M. (Michael), Schoemaker, M. (Minouk), Folkerd, E.J. (Elizabeth J.), Haynes, B.P. (Ben P.), Hopper, J.L. (John), Southey, M.C. (Melissa), Dite, G.S. (Gillian S.), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Atsma, F. (Femke), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Renner, S.P. (S.), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Frederik), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Cordina, E. (Emilie), Menegaux, F. (Florence), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Benítez, J. (Javier), Bernstein, L. (Leslie), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Clarke Dur, C. (Christina), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Dieffenbach, A.K. (Aida Karina), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru A.), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia N.), Lindblom, A. (Annika), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Wu, A.H. (Anna), Van Den Berg, D. (David), Tseng, C.-C. (Chiu-Chen), Lambrechts, D. (Diether), Smeets, D. (Dominiek), Neven, P. (Patrick), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Pensotti, V. (Valeria), Couch, F.J. (Fergus J.), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Giles, G.G. (Graham G.), Severi, G. (Gianluca), Baglietto, L. (Laura), Haiman, C.A. (Christopher), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Soucy, P. (Penny), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Phuah, S.-Y. (Sze-Yee), Cornes, B.K. (Belinda K.), Kristensen, V.N. (Vessela N.), Grenaker Alnæs, G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Devillee, P. (Peter), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hall, P. (Per), Schoof, N. (Nils), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Cross, S.S. (Simon), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Kang, D. (Daehee), Noh, D.-Y. (Dong-Young), Park, S.K. (Sue K.), Choi, J.-Y. (Ji-Yeob), Hartman, M. (Mikael), Miao, X., Lim, W.Y. (Wei Yen), Tang, A. (Anthony), Hamann, U. (Ute), Försti, A. (Asta), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J. (James), Slager, S. (Susan), Toland, A.E. (Amanda E.), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Shen, C.-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), González-Neira, A. (Anna), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, J. (Jinxia), Easton, D.F. (Douglas), García-Closas, M. (Montserrat), Dowsett, M. (Mitch), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Dudbridge, F. (Frank), Orr, N. (Nick), Gibson, L.J. (Lorna), Jones, M. (Michael), Schoemaker, M. (Minouk), Folkerd, E.J. (Elizabeth J.), Haynes, B.P. (Ben P.), Hopper, J.L. (John), Southey, M.C. (Melissa), Dite, G.S. (Gillian S.), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Atsma, F. (Femke), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Renner, S.P. (S.), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Frederik), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Cordina, E. (Emilie), Menegaux, F. (Florence), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Benítez, J. (Javier), Bernstein, L. (Leslie), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Clarke Dur, C. (Christina), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Dieffenbach, A.K. (Aida Karina), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru A.), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia N.), Lindblom, A. (Annika), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Wu, A.H. (Anna), Van Den Berg, D. (David), Tseng, C.-C. (Chiu-Chen), Lambrechts, D. (Diether), Smeets, D. (Dominiek), Neven, P. (Patrick), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Pensotti, V. (Valeria), Couch, F.J. (Fergus J.), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Giles, G.G. (Graham G.), Severi, G. (Gianluca), Baglietto, L. (Laura), Haiman, C.A. (Christopher), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Soucy, P. (Penny), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Phuah, S.-Y. (Sze-Yee), Cornes, B.K. (Belinda K.), Kristensen, V.N. (Vessela N.), Grenaker Alnæs, G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Devillee, P. (Peter), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hall, P. (Per), Schoof, N. (Nils), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Cross, S.S. (Simon), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Kang, D. (Daehee), Noh, D.-Y. (Dong-Young), Park, S.K. (Sue K.), Choi, J.-Y. (Ji-Yeob), Hartman, M. (Mikael), Miao, X., Lim, W.Y. (Wei Yen), Tang, A. (Anthony), Hamann, U. (Ute), Försti, A. (Asta), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J. (James), Slager, S. (Susan), Toland, A.E. (Amanda E.), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Shen, C.-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), González-Neira, A. (Anna), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, J. (Jinxia), Easton, D.F. (Douglas), García-Closas, M. (Montserrat), Dowsett, M. (Mitch), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, and Fletcher, O. (Olivia)
Abstract: INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years.METHODS: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics.RESULTS: We confirmed the association of rs10235235 with breast
Published: 2014
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42. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Author: Ghoussaini, M. (Maya), Edwards, S.L. (Stacey), Michailidou, K. (Kyriaki), Nord, S. (Silje), Cowper-Sallari, R. (Richard), Desai, K. (Kinjal), Kar, S. (Siddhartha), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Glubb, D.M. (Dylan), Beesley, J. (Jonathan), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dicks, E. (Ed), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Klevebring, D. (Daniel), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Neven, P. (Patrick), Wildiers, H. (Hans), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Gibson, L.J. (Lorna), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Hall, P. (Per), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Yatabe, Y. (Yasushi), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, Q. (Qiuyin), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Lee, D.S.C. (Daphne S.C.), Wong, T.Y. (Tien Yin), Hooning, M.J. (Maartje), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Kapuscinski, M.K. (Miroslav K.), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Chen, S.-T., Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, M. (Mikael), Miao, X., Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Teo, Y.Y. (Yik Ying), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Koto, Y.-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Hamann, U. (Ute), Torres, D. (Diana), Zheng, W. (Wei), Long, J. (Jirong), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Santiago, I. (Ines) de, Carroll, J. (Jason), Caldas, C. (Carlos), Brown, M. (Melissa), Lupien, M. (Mathieu), Kristensen, V. (Vessela), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), French, J.D. (Juliet), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Webb, P. (Penny), De Fazio, A. (Anna), Ghoussaini, M. (Maya), Edwards, S.L. (Stacey), Michailidou, K. (Kyriaki), Nord, S. (Silje), Cowper-Sallari, R. (Richard), Desai, K. (Kinjal), Kar, S. (Siddhartha), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Glubb, D.M. (Dylan), Beesley, J. (Jonathan), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dicks, E. (Ed), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Klevebring, D. (Daniel), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Neven, P. (Patrick), Wildiers, H. (Hans), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Gibson, L.J. (Lorna), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Hall, P. (Per), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Yatabe, Y. (Yasushi), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, Q. (Qiuyin), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Lee, D.S.C. (Daphne S.C.), Wong, T.Y. (Tien Yin), Hooning, M.J. (Maartje), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Kapuscinski, M.K. (Miroslav K.), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Chen, S.-T., Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, M. (Mikael), Miao, X., Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Teo, Y.Y. (Yik Ying), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Koto, Y.-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Hamann, U. (Ute), Torres, D. (Diana), Zheng, W. (Wei), Long, J. (Jirong), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Santiago, I. (Ines) de, Carroll, J. (Jason), Caldas, C. (Carlos), Brown, M. (Melissa), Lupien, M. (Mathieu), Kristensen, V. (Vessela), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), French, J.D. (Juliet), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Webb, P. (Penny), and De Fazio, A. (Anna)
Abstract: GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the 'iCOGS' genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly correlated SNPs (rs4442975 G/T and rs6721996 G/A) are excluded as candidate causal variants at odds against >100:1. The best functional candidate, rs4442975, is associated with oestrogen receptor positive (ER+) disease with an odds ratio (OR) in Europeans of 0.85 (95% confidence interval=0.84-0.87; P=1.7 × 10-43) per t-allele. This SNP flanks a transcriptional enhancer that physically interacts with the promoter of IGFBP5 (encoding insulin-like growth factor-binding protein 5) and displays allele-specific gene expression, FOXA1 binding and chromatin looping. Evidence suggests that the g-allele confers increased breast cancer susceptibility through relative downregulation of IGFBP5, a gene with known roles in breast cell biology.
Published: 2014
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43. Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

Author: Kabisch, M. (Maria), Bermejo, J.L. (Justo Lorenzo), Dünnebier, T. (Thomas), Ying, S. (Shibo), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Neven, P. (Patrick), Peeters, S.T.H. (Stephanie), Weltens, C. (Caroline), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Purrington, K. (Kristen), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Fletcher, O. (Olivia), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Hogervorst, F.B.L. (Frans), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Bugert, P. (Peter), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Kriege, M. (Mieke), Koppert, L.B. (Linetta), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Slettedahl, S. (Seth), Toland, A.E. (Amanda), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Scuvera, G. (Giulietta), Fortuzzi, S. (S.), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.M. (Robert A.M.), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Zheng, W. (Wei), Shrubsole, M. (Martha), Cai, Q. (Qiuyin), Torres, D. (Diana), Anton-Culver, H. (Hoda), Kristensen, V. (Vessela), Bacot, F. (Francois), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Hall, P. (Per), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Easton, D.F. (Douglas), Hamann, U. (Ute), Kabisch, M. (Maria), Bermejo, J.L. (Justo Lorenzo), Dünnebier, T. (Thomas), Ying, S. (Shibo), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Neven, P. (Patrick), Peeters, S.T.H. (Stephanie), Weltens, C. (Caroline), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Purrington, K. (Kristen), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Fletcher, O. (Olivia), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Hogervorst, F.B.L. (Frans), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Bugert, P. (Peter), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Kriege, M. (Mieke), Koppert, L.B. (Linetta), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Slettedahl, S. (Seth), Toland, A.E. (Amanda), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Scuvera, G. (Giulietta), Fortuzzi, S. (S.), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.M. (Robert A.M.), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Zheng, W. (Wei), Shrubsole, M. (Martha), Cai, Q. (Qiuyin), Torres, D. (Diana), Anton-Culver, H. (Hoda), Kristensen, V. (Vessela), Bacot, F. (Francois), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Hall, P. (Per), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Easton, D.F. (Douglas), and Hamann, U. (Ute)
Abstract: The chromosomal passenger complex (CPC) plays a pivotal role in the regulation of cell division. Therefore, inherited CPC variability could influence tumor development. The present candidate gene approach investigates the relationship between single nucleotide polymorphisms (SNPs) in genes encoding key CPC components and breast cancer risk. Fifteen SNPs in four CPC genes (INCENP, AURKB, BIRC5 and CDCA8) were genotyped in 88 911 European women from 39 case-control studies of the Breast Cancer Association Consortium. Possible associations were investigated in fixedeffects meta-analyses. The synonymous SNP rs1675126 in exon 7 of INCENP was associated with overall breast cancer risk [per A allele odds ratio (OR) 0.95, 95% confidence interval (CI) 0.92-0.98, P = 0.007] and particularly with estrogen receptor (ER)-negative breast tumors (per A allele OR 0.89, 95% CI 0.83-0.95, P = 0.0005). SNPs not directly genotyped were imputed based on 1000 Genomes. The SNPs rs1047739 in the 3′ untranslated region and rs144045115 downstream of INCENP showed the strongest association signals for overall (per T allele OR 1.03, 95% CI 1.00-1.06, P = 0.0009) and ER-negative breast cancer risk (per A allele OR 1.06, 95% CI 1.02-1.10, P = 0.0002). Two genotyped SNPs in BIRC5 were associated with familial breast cancer risk (top SNP rs2071214: per G allele OR 1.12, 95% CI 1.04-1.21, P = 0.002). The data suggest that INCENP in the CPC pathway contributes to ER-nega
Published: 2014
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44. MicroRNA related polymorphisms and breast cancer risk

Author: Khan, S. (Sofia), Greco, D. (Dario), Michailidou, K. (Kyriaki), Milne, R.L. (Roger), Muranen, T.A. (Taru), Heikkinen, T. (Tuomas), Aaltonen, K. (Kirsimari), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Irwanto, A. (Astrid), Humphreys, M.K. (Manjeet), Li, J. (Jingmei), Czene, K. (Kamila), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Gibson, L.J. (Lorna), Aitken, Z. (Zoe), Hopper, J.L. (John), Tsimiklis, H. (Helen), Bui, M. (Minh), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Stone, J. (Jennifer), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Lichtner, P. (Peter), Turnbull, C. (Clare), Rahman, N. (Nazneen), Chanock, S.J. (Stephen), Hunter, D. (David), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Hogervorst, F.B.L. (Frans), Fasching, P.A. (Peter), Schrauder, A. (André), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, P.M. (Pilar M.), Perez, J.I.A. (Jose Ignacio Arias), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), March, L.L. (Loic Le), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Couch, F.J. (Fergus), Wang, X. (X.), Vachon, C. (Celine), Olson, J.E. (Janet), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Paridaens, R. (Robert), Christiaens, M.R. (Marie Rose), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Marme, F. (Frederick), Burwinkel, B. (Barbara), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Tchatchou, S. (Srine), Mulligan, A.-M. (Anna-Marie), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Anton-Culver, H. (Hoda), Darabi, H. (Hatef), Eriksson, M. (Mats), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Kristensen, V. (Vessela), Slager, S. (Susan), Tol, A.E. (Ama E.), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Lindblom, A. (Annika), Margolin, S. (Sara), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Mariani, P. (Paolo), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Collée, J.M. (Margriet), Jager, A. (Agnes), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Giles, G.G. (Graham), McLean, C.A. (Catriona Ann), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Mannermaa, A. (Arto), Hamann, U. (Ute), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Easton, D.F. (Douglas), Nevanlinna, H. (Heli), Khan, S. (Sofia), Greco, D. (Dario), Michailidou, K. (Kyriaki), Milne, R.L. (Roger), Muranen, T.A. (Taru), Heikkinen, T. (Tuomas), Aaltonen, K. (Kirsimari), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Irwanto, A. (Astrid), Humphreys, M.K. (Manjeet), Li, J. (Jingmei), Czene, K. (Kamila), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Gibson, L.J. (Lorna), Aitken, Z. (Zoe), Hopper, J.L. (John), Tsimiklis, H. (Helen), Bui, M. (Minh), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Stone, J. (Jennifer), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Lichtner, P. (Peter), Turnbull, C. (Clare), Rahman, N. (Nazneen), Chanock, S.J. (Stephen), Hunter, D. (David), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Hogervorst, F.B.L. (Frans), Fasching, P.A. (Peter), Schrauder, A. (André), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, P.M. (Pilar M.), Perez, J.I.A. (Jose Ignacio Arias), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), March, L.L. (Loic Le), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Couch, F.J. (Fergus), Wang, X. (X.), Vachon, C. (Celine), Olson, J.E. (Janet), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Paridaens, R. (Robert), Christiaens, M.R. (Marie Rose), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Marme, F. (Frederick), Burwinkel, B. (Barbara), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Tchatchou, S. (Srine), Mulligan, A.-M. (Anna-Marie), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Anton-Culver, H. (Hoda), Darabi, H. (Hatef), Eriksson, M. (Mats), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Kristensen, V. (Vessela), Slager, S. (Susan), Tol, A.E. (Ama E.), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Lindblom, A. (Annika), Margolin, S. (Sara), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Mariani, P. (Paolo), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Collée, J.M. (Margriet), Jager, A. (Agnes), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Giles, G.G. (Graham), McLean, C.A. (Catriona Ann), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Mannermaa, A. (Arto), Hamann, U. (Ute), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Easton, D.F. (Douglas), and Nevanlinna, H. (Heli)
Abstract: Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining n
Published: 2014
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45. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Author: Perry, J.R.B. (John), Day, F.R. (Felix), Elks, C.E. (Cathy), Sulem, P. (Patrick), Thompson, D. (Deborah), Ferreira, T. (Teresa), He, C. (Chunyan), Chasman, D.I. (Daniel), Esko, T. (Tõnu), Thorleifsson, G. (Gudmar), Albrecht, E. (Eva), Ang, W.Q. (Wei), Corre, T. (Tanguy), Cousminer, D.L. (Diana), Feenstra, B. (Bjarke), Franceschini, N. (Nora), Ganna, A. (Andrea), Johnson, A.D. (Andrew), Kjellqvist, S. (Sanela), Lunetta, K.L. (Kathryn), Mcmahon, G. (George), Nolte, I.M. (Ilja), Paternoster, L. (Lavinia), Porcu, E. (Eleonora), Smith, A.V. (Davey), Stolk, L. (Lisette), Teumer, A. (Alexander), Tsernikova, N. (Natalia), Tikkanen, E. (Emmi), Ulivi, S. (Shelia), Wagner, E.K. (Erin K.), Amin, N. (Najaf), Bierut, L.J. (Laura), Byrne, E.M. (Enda), Hottenga, J.J. (Jouke Jan), Koller, D.L. (Daniel), Mangino, M. (Massimo), Pers, T.H. (Tune), Yerges-Armstrong, L.M. (Laura), Zhao, J.H. (Jing Hua), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Atsma, F. (Femke), Bandinelli, S. (Stefania), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Blomqvist, C. (Carl), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Buring, J.E. (Julie), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chen, J. (Jinhui), Chenevix-Trench, G. (Georgia), Collée, J.M. (Margriet), Couch, F.J. (Fergus), Couper, D.J. (David), Coviello, A.D. (Andrea), Cox, A. (Angela), Czene, K. (Kamila), Adamo, P. (Pio) d', Vivo, I. (Immaculata) de, Demerath, E.W. (Ellen), Dennis, J. (Joe), Devilee, P. (Peter), Dieffenbach, A.K. (Aida Karina), Dunning, A.M. (Alison), Eiriksdottir, G. (Gudny), Hagen, K. (Knut), Fasching, P.A. (Peter), Ferrucci, L. (Luigi), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Foroud, T. (Tatiana), Franke, L. (Lude), Garcia, M. (Melissa), García-Closas, M. (Montserrat), Geller, F. (Frank), Geus, E.J.C. (Eco) de, Giles, G.G. (Graham), Gudbjartsson, D.F. (Daniel), Gudnason, V. (Vilmundur), Guénel, P. (Pascal), Guo, S. (Suiqun), Hall, P. (Per), Hamann, U. (Ute), Haring, R. (Robin), Hartman, C.A. (Catharina), Heath, A.C. (Andrew), Hofman, A. (Albert), Hooning, M.J. (Maartje), Hopper, J.L. (John), Hu, F.B. (Frank), Hunter, D. (David), Karasik, D. (David), Kiel, D.P. (Douglas P.), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Kutalik, Z. (Zoltán), Lai, S. (Sandra), Lambrechts, D. (Diether), Lindblom, A. (Annika), Mägi, R. (Reedik), Magnusson, P.K. (Patrik), Mannermaa, A. (Arto), Martin, N.G. (Nicholas), Masson, G. (Gisli), McArdle, P.F. (Patrick), McArdle, W.L. (Wendy), Melbye, M. (Mads), Michailidou, K. (Kyriaki), Mihailov, E. (Evelin), Milani, L. (Lili), Milne, R.L. (Roger L), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nohr, C. (Christian), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), Palotie, A. (Aarno), Peacock, M. (Munro), Pedersen, N.L. (Nancy L.), Peterlongo, P. (Paolo), Peto, J. (Julian), Pharoah, P.D.P. (Paul), Postma, D.S. (Dirkje), Pouta, A. (Anneli), Pykäs, K. (Katri), Radice, P. (Paolo), Ring, S.M. (Susan), Rivadeneira Ramirez, F. (Fernando), Robino, A. (Antonietta), Rose, L.M. (Lynda), Rudolph, A. (Anja), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D. (David), Schmidt, M.K. (Marjanka), Southey, M.C. (Mellissa C.), Sovio, U. (Ulla), Stampfer, M.J. (Meir J.), Stöckl, D. (Doris), Storniolo, A.M. (Anna M.), Timpson, N.J. (Nicholas), Tyrer, J.P. (Jonathan), Visser, J.A. (Jenny), Vollenweider, P. (Peter), Völzke, H. (Henry), Waeber, G. (Gérard), Waldenberger, M. (Melanie), Wallaschofski, H. (Henri), Wang, Q. (Qing), Willemsen, G.A.H.M. (Gonneke), Winqvist, R. (Robert), Wolffenbuttel, B.H.R. (Bruce H. R.), Wright, M.J. (Margaret), Boomsma, D.I. (Dorret), Econs, M.J. (Michael), Khaw, K.T., Loos, R.J.F. (Ruth), McCarthy, M.I. (Mark), Montgomery, G.W. (Grant), Rice, J.P. (John), Streeten, E.A. (Elizabeth), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Alizadeh, B.Z. (Behrooz), Bergmann, S.M. (Sven), Boerwinkle, E.A. (Eric), Boyd, H.A. (Heather), Crisponi, L. (Laura), Gasparini, P. (Paolo), Gieger, C. (Christian), Harris, T.B. (Tamara), Ingelsson, E. (Erik), Jarvelin, M.-R. (Marjo-Riitta), Kraft, P. (Peter), Lawlor, D.A. (Debbie), Metspalu, A. (Andres), Pennell, C.E. (Craig), Ridker, P.M. (Paul), Snieder, H. (Harold), Sørensen, T.I.A., Spector, T.D. (Timothy), Strachan, D.P. (David P.), Uitterlinden, A.G. (André), Wareham, N.J. (Nick), Widen, E. (Elisabeth), Zygmunt, M. (Marek), Murray, A. (Anna), Easton, D.F. (Douglas), Zwart, J-A. (John-Anker), Murabito, J. (Joanne), Ong, K.K. (Ken K.), Perry, J.R.B. (John), Day, F.R. (Felix), Elks, C.E. (Cathy), Sulem, P. (Patrick), Thompson, D. (Deborah), Ferreira, T. (Teresa), He, C. (Chunyan), Chasman, D.I. (Daniel), Esko, T. (Tõnu), Thorleifsson, G. (Gudmar), Albrecht, E. (Eva), Ang, W.Q. (Wei), Corre, T. (Tanguy), Cousminer, D.L. (Diana), Feenstra, B. (Bjarke), Franceschini, N. (Nora), Ganna, A. (Andrea), Johnson, A.D. (Andrew), Kjellqvist, S. (Sanela), Lunetta, K.L. (Kathryn), Mcmahon, G. (George), Nolte, I.M. (Ilja), Paternoster, L. (Lavinia), Porcu, E. (Eleonora), Smith, A.V. (Davey), Stolk, L. (Lisette), Teumer, A. (Alexander), Tsernikova, N. (Natalia), Tikkanen, E. (Emmi), Ulivi, S. (Shelia), Wagner, E.K. (Erin K.), Amin, N. (Najaf), Bierut, L.J. (Laura), Byrne, E.M. (Enda), Hottenga, J.J. (Jouke Jan), Koller, D.L. (Daniel), Mangino, M. (Massimo), Pers, T.H. (Tune), Yerges-Armstrong, L.M. (Laura), Zhao, J.H. (Jing Hua), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Atsma, F. (Femke), Bandinelli, S. (Stefania), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Blomqvist, C. (Carl), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Buring, J.E. (Julie), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen), Chen, J. (Jinhui), Chenevix-Trench, G. (Georgia), Collée, J.M. (Margriet), Couch, F.J. (Fergus), Couper, D.J. (David), Coviello, A.D. (Andrea), Cox, A. (Angela), Czene, K. (Kamila), Adamo, P. (Pio) d', Vivo, I. (Immaculata) de, Demerath, E.W. (Ellen), Dennis, J. (Joe), Devilee, P. (Peter), Dieffenbach, A.K. (Aida Karina), Dunning, A.M. (Alison), Eiriksdottir, G. (Gudny), Hagen, K. (Knut), Fasching, P.A. (Peter), Ferrucci, L. (Luigi), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Foroud, T. (Tatiana), Franke, L. (Lude), Garcia, M. (Melissa), García-Closas, M. (Montserrat), Geller, F. (Frank), Geus, E.J.C. (Eco) de, Giles, G.G. (Graham), Gudbjartsson, D.F. (Daniel), Gudnason, V. (Vilmundur), Guénel, P. (Pascal), Guo, S. (Suiqun), Hall, P. (Per), Hamann, U. (Ute), Haring, R. (Robin), Hartman, C.A. (Catharina), Heath, A.C. (Andrew), Hofman, A. (Albert), Hooning, M.J. (Maartje), Hopper, J.L. (John), Hu, F.B. (Frank), Hunter, D. (David), Karasik, D. (David), Kiel, D.P. (Douglas P.), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Kutalik, Z. (Zoltán), Lai, S. (Sandra), Lambrechts, D. (Diether), Lindblom, A. (Annika), Mägi, R. (Reedik), Magnusson, P.K. (Patrik), Mannermaa, A. (Arto), Martin, N.G. (Nicholas), Masson, G. (Gisli), McArdle, P.F. (Patrick), McArdle, W.L. (Wendy), Melbye, M. (Mads), Michailidou, K. (Kyriaki), Mihailov, E. (Evelin), Milani, L. (Lili), Milne, R.L. (Roger L), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nohr, C. (Christian), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), Palotie, A. (Aarno), Peacock, M. (Munro), Pedersen, N.L. (Nancy L.), Peterlongo, P. (Paolo), Peto, J. (Julian), Pharoah, P.D.P. (Paul), Postma, D.S. (Dirkje), Pouta, A. (Anneli), Pykäs, K. (Katri), Radice, P. (Paolo), Ring, S.M. (Susan), Rivadeneira Ramirez, F. (Fernando), Robino, A. (Antonietta), Rose, L.M. (Lynda), Rudolph, A. (Anja), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D. (David), Schmidt, M.K. (Marjanka), Southey, M.C. (Mellissa C.), Sovio, U. (Ulla), Stampfer, M.J. (Meir J.), Stöckl, D. (Doris), Storniolo, A.M. (Anna M.), Timpson, N.J. (Nicholas), Tyrer, J.P. (Jonathan), Visser, J.A. (Jenny), Vollenweider, P. (Peter), Völzke, H. (Henry), Waeber, G. (Gérard), Waldenberger, M. (Melanie), Wallaschofski, H. (Henri), Wang, Q. (Qing), Willemsen, G.A.H.M. (Gonneke), Winqvist, R. (Robert), Wolffenbuttel, B.H.R. (Bruce H. R.), Wright, M.J. (Margaret), Boomsma, D.I. (Dorret), Econs, M.J. (Michael), Khaw, K.T., Loos, R.J.F. (Ruth), McCarthy, M.I. (Mark), Montgomery, G.W. (Grant), Rice, J.P. (John), Streeten, E.A. (Elizabeth), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Alizadeh, B.Z. (Behrooz), Bergmann, S.M. (Sven), Boerwinkle, E.A. (Eric), Boyd, H.A. (Heather), Crisponi, L. (Laura), Gasparini, P. (Paolo), Gieger, C. (Christian), Harris, T.B. (Tamara), Ingelsson, E. (Erik), Jarvelin, M.-R. (Marjo-Riitta), Kraft, P. (Peter), Lawlor, D.A. (Debbie), Metspalu, A. (Andres), Pennell, C.E. (Craig), Ridker, P.M. (Paul), Snieder, H. (Harold), Sørensen, T.I.A., Spector, T.D. (Timothy), Strachan, D.P. (David P.), Uitterlinden, A.G. (André), Wareham, N.J. (Nick), Widen, E. (Elisabeth), Zygmunt, M. (Marek), Murray, A. (Anna), Easton, D.F. (Douglas), Zwart, J-A. (John-Anker), Murabito, J. (Joanne), and Ong, K.K. (Ken K.)
Abstract: Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10-8) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarc
Published: 2014
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46. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Author: Sawyer, E.J. (Elinor), Roylance, R. (Rebecca), Petridis, C. (Christos), Brook, R.H., Nowinski, S. (Salpie), Papouli, E. (Efterpi), Fletcher, O. (Olivia), Pinder, S. (Sarah), Hanby, A. (Andrew), Kohut, K. (Kelly), Gorman, P. (Patricia), Caneppele, M. (Michele), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, K.-A. (Katherine-Anne), Gillett, C. (Cheryl), Houlston, R. (Richard), Ross, G. (Gillian), Ieso, P. (Paolo) de, Southey, M.C. (Melissa), Hopper, J.L. (John), Provenzano, E. (Elena), Apicella, C. (Carmel), Wesseling, J. (Jelle), Cornelissen, S. (Sten), Keeman, J.N., Fasching, P.A. (Peter), Jud, S.M. (Sebastian), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Kerin, M. (Michael), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Kerbrat, P. (Pierre), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Benítez, J. (Javier), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Lochmann, M. (Magdalena), Brauch, H. (Hiltrud), Fischer, H.-P., Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chenevix-Trench, G. (Georgia), Lambrechts, D. (Diether), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Hatse, S. (Sigrid), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Kristensen, V. (Vessela), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Devillee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Kriege, M. (Mieke), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Deurzen, C.H.M. (Carolien) van, Li, J. (Jingmei), Czene, K. (Kamila), Humphreys, M.K. (Manjeet), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Shah, M. (Mitul), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Couch, F.J. (Fergus), Hallberg, B. (Boubou), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Tessier, Y. (Yann), Vincent, D. (Daniel), Bacot, F. (Francois), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Dunning, A.M. (Alison), Hall, P. (Per), Easton, D.F. (Douglas), Pharoah, P.D.P. (Paul), Schmidt, M.K. (Marjanka), Tomlinson, I.P. (Ian), García-Closas, M. (Montserrat), Sawyer, E.J. (Elinor), Roylance, R. (Rebecca), Petridis, C. (Christos), Brook, R.H., Nowinski, S. (Salpie), Papouli, E. (Efterpi), Fletcher, O. (Olivia), Pinder, S. (Sarah), Hanby, A. (Andrew), Kohut, K. (Kelly), Gorman, P. (Patricia), Caneppele, M. (Michele), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, K.-A. (Katherine-Anne), Gillett, C. (Cheryl), Houlston, R. (Richard), Ross, G. (Gillian), Ieso, P. (Paolo) de, Southey, M.C. (Melissa), Hopper, J.L. (John), Provenzano, E. (Elena), Apicella, C. (Carmel), Wesseling, J. (Jelle), Cornelissen, S. (Sten), Keeman, J.N., Fasching, P.A. (Peter), Jud, S.M. (Sebastian), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Kerin, M. (Michael), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Kerbrat, P. (Pierre), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Benítez, J. (Javier), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Lochmann, M. (Magdalena), Brauch, H. (Hiltrud), Fischer, H.-P., Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chenevix-Trench, G. (Georgia), Lambrechts, D. (Diether), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Hatse, S. (Sigrid), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Kristensen, V. (Vessela), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Devillee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Kriege, M. (Mieke), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Deurzen, C.H.M. (Carolien) van, Li, J. (Jingmei), Czene, K. (Kamila), Humphreys, M.K. (Manjeet), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Shah, M. (Mitul), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Couch, F.J. (Fergus), Hallberg, B. (Boubou), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Tessier, Y. (Yann), Vincent, D. (Daniel), Bacot, F. (Francois), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Dunning, A.M. (Alison), Hall, P. (Per), Easton, D.F. (Douglas), Pharoah, P.D.P. (Paul), Schmidt, M.K. (Marjanka), Tomlinson, I.P. (Ian), and García-Closas, M. (Montserrat)
Abstract: Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we po
Published: 2014
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47. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Author: Spurdle, A.B. (Amanda), Couch, F.J. (Fergus), Parsons, M. (Marilyn), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Healey, S. (Sue), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Hahnen, E. (Eric), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Ellis, S.D. (Steve), Frost, D. (Debra), Platte, R. (Radka), Perkins, J. (Jo), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, L., Davidson, R. (Rosemarie), Cole, T.J. (Trevor), Scuvera, G. (Giulietta), Manoukian, S. (Siranoush), Bonnani, B. (Bernardo), Mariette, F. (F.), Fortuzzi, S. (S.), Viel, A. (Alessandra), Pasini, B. (Barbara), Papi, L. (Laura), Varesco, L. (Liliana), Balleine, R. (Rosemary), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Offitt, K. (Kenneth), Jakubowska, A. (Anna), Lindor, N.M. (Noralane), Thomassen, M. (Mads), Jensen, U.B., Rantala, J. (Johanna), Borg, Å. (Åke), Andrulis, I.L. (Irene), Miron, A. (Alexander), Hansen, T.V.O. (Thomas), Caldes, T. (Trinidad), Neuhausen, S.L. (Susan), Toland, A.E. (Amanda), Nevanlinna, H. (Heli), Montagna, M. (Marco), Garber, J. (Judy), Godwin, A.K. (Andrew), Osorio, A. (Ana), Factor, R.E. (Rachel E.), Terry, M.B. (Mary B.), Rebbeck, R. (Timothy), Karlan, B.Y. (Beth), Southey, M.C. (Melissa), Rashid, M.U. (Muhammad), Tung, N. (Nadine), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Provenzano, E. (Elena), Hall, P. (Per), Czene, K. (Kamila), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Verhoef, S., Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Slamon, D.J. (Dennis), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Heikkilä, P. (Päivi), Blomqvist, C. (Carl), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Brinton, L.A. (Louise), Lissowska, J. (Jolanta), Olson, J.E. (Janet), Pankratz, V.S. (Shane), John, E.M. (Esther), Whittemore, A.S. (Alice), West, D. van, Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Eccles, D. (Diana), Tapper, W. (William), Durcan, L. (Lorraine), Jones, L. (Louise), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Dwek, M. (Miriam), Swann, R. (Ruth), Bane, A.L. (Anita L.), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Giles, G.G. (Graham), Milne, R.L. (Roger), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R.J. (Rodney), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y-D. (Yon-Dschun), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Gronwald, J. (Jacek), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Park-Simon, T.-W., Hillemanns, P. (Peter), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Burwinkel, B. (Barbara), Marme, F. (Federick), Surovy, H. (Harald), Yang, R. (Rongxi), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Hooning, M.J. (Maartje), Collée, J.M. (Margriet), Martens, J.W.M. (John), Tilanus-Linthorst, M.M.A. (Madeleine), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Lindblom, A. (Annika), Margolin, S. (Sara), Joseph, V. (Vijai), Robson, M. (Mark), Rau-Murthy, R. (Rohini), González-Neira, A. (Anna), Arias Pérez, J.I. (José Ignacio), Zamora, P. (Pilar), Benítez, J. (Javier), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Peterlongo, P. (Paolo), Zaffaroni, D. (D.), Barile, M. (Monica), Capra, F. (Fabio), Radice, P. (Paolo), Teo, S.-H. (Soo-Hwang), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), Goldgar, D. (David), Spurdle, A.B. (Amanda), Couch, F.J. (Fergus), Parsons, M. (Marilyn), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Healey, S. (Sue), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Rhiem, K. (Kerstin), Hahnen, E. (Eric), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Plendl, H. (Hansjoerg), Niederacher, D. (Dieter), Sutter, C. (Christian), Wang-Gohrke, S. (Shan), Steinemann, D. (Doris), Preisler-Adams, S. (Sabine), Kast, K. (Karin), Varon-Mateeva, R. (Raymonda), Ellis, S.D. (Steve), Frost, D. (Debra), Platte, R. (Radka), Perkins, J. (Jo), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, L., Davidson, R. (Rosemarie), Cole, T.J. (Trevor), Scuvera, G. (Giulietta), Manoukian, S. (Siranoush), Bonnani, B. (Bernardo), Mariette, F. (F.), Fortuzzi, S. (S.), Viel, A. (Alessandra), Pasini, B. (Barbara), Papi, L. (Laura), Varesco, L. (Liliana), Balleine, R. (Rosemary), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Offitt, K. (Kenneth), Jakubowska, A. (Anna), Lindor, N.M. (Noralane), Thomassen, M. (Mads), Jensen, U.B., Rantala, J. (Johanna), Borg, Å. (Åke), Andrulis, I.L. (Irene), Miron, A. (Alexander), Hansen, T.V.O. (Thomas), Caldes, T. (Trinidad), Neuhausen, S.L. (Susan), Toland, A.E. (Amanda), Nevanlinna, H. (Heli), Montagna, M. (Marco), Garber, J. (Judy), Godwin, A.K. (Andrew), Osorio, A. (Ana), Factor, R.E. (Rachel E.), Terry, M.B. (Mary B.), Rebbeck, R. (Timothy), Karlan, B.Y. (Beth), Southey, M.C. (Melissa), Rashid, M.U. (Muhammad), Tung, N. (Nadine), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Provenzano, E. (Elena), Hall, P. (Per), Czene, K. (Kamila), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Verhoef, S., Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Slamon, D.J. (Dennis), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Heikkilä, P. (Päivi), Blomqvist, C. (Carl), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Brinton, L.A. (Louise), Lissowska, J. (Jolanta), Olson, J.E. (Janet), Pankratz, V.S. (Shane), John, E.M. (Esther), Whittemore, A.S. (Alice), West, D. van, Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Eccles, D. (Diana), Tapper, W. (William), Durcan, L. (Lorraine), Jones, L. (Louise), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Dwek, M. (Miriam), Swann, R. (Ruth), Bane, A.L. (Anita L.), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Giles, G.G. (Graham), Milne, R.L. (Roger), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R.J. (Rodney), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y-D. (Yon-Dschun), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Gronwald, J. (Jacek), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Park-Simon, T.-W., Hillemanns, P. (Peter), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Burwinkel, B. (Barbara), Marme, F. (Federick), Surovy, H. (Harald), Yang, R. (Rongxi), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Hooning, M.J. (Maartje), Collée, J.M. (Margriet), Martens, J.W.M. (John), Tilanus-Linthorst, M.M.A. (Madeleine), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Lindblom, A. (Annika), Margolin, S. (Sara), Joseph, V. (Vijai), Robson, M. (Mark), Rau-Murthy, R. (Rohini), González-Neira, A. (Anna), Arias Pérez, J.I. (José Ignacio), Zamora, P. (Pilar), Benítez, J. (Javier), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Peterlongo, P. (Paolo), Zaffaroni, D. (D.), Barile, M. (Monica), Capra, F. (Fabio), Radice, P. (Paolo), Teo, S.-H. (Soo-Hwang), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), and Goldgar, D. (David)
Abstract: Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling. Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the l
Published: 2014
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48. 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

Author: Li, J. (Jingmei), Lindström, L.S. (Linda), Foo, J.N. (Jia), Rafiq, M. (Meena), Schmidt, M.K. (Marjanka), Pharoah, P.D.P. (Paul), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Veer, L.J. (Laura) van 't, Cornelissen, S. (Sten), Rutgers, E.J.T. (Emiel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Dite, G.S. (Gillian), Hopper, J.L. (John), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Blomqvist, C. (Carl), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Investigators, K. (Kconfab), Phillips, K.-A. (Kelly-Anne), McLachlan, S.-A. (Sue-Anne), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Smeets, A. (Ann), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Rudolph, A. (Anja), Giles, G.G. (Graham), Baglietto, L. (Laura), Severi, G. (Gianluca), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Kristensen, V. (Vessela), Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Nord, S. (Silje), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Hooning, M.J. (Maartje), Kriege, M. (Mieke), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Li, Y. (Yi), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Rüdiger, T. (Thomas), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Chen, S.-T. (Shou-Tung), Teo, S.-H. (Soo-Hwang), Taib, N.A.M. (Nur Aishah Mohd), Har Yip, C. (Cheng), Fuang Ho, G. (Gwo), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tajima, K. (Kazuo), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue), Yoo, K-Y. (Keun-Young), Maishman, T. (Tom), Tapper, W. (William), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Chuen Khor, C. (Chiea), Eccles, D. (Diana), Nevanlinna, H. (Heli), Easton, D.F. (Douglas), Humphreys, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Czene, K. (Kamila), Li, J. (Jingmei), Lindström, L.S. (Linda), Foo, J.N. (Jia), Rafiq, M. (Meena), Schmidt, M.K. (Marjanka), Pharoah, P.D.P. (Paul), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Veer, L.J. (Laura) van 't, Cornelissen, S. (Sten), Rutgers, E.J.T. (Emiel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Dite, G.S. (Gillian), Hopper, J.L. (John), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Blomqvist, C. (Carl), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Investigators, K. (Kconfab), Phillips, K.-A. (Kelly-Anne), McLachlan, S.-A. (Sue-Anne), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Smeets, A. (Ann), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Rudolph, A. (Anja), Giles, G.G. (Graham), Baglietto, L. (Laura), Severi, G. (Gianluca), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Kristensen, V. (Vessela), Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Nord, S. (Silje), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Hooning, M.J. (Maartje), Kriege, M. (Mieke), Hollestelle, A. (Antoinette), Ouweland, A.M.W. (Ans) van den, Li, Y. (Yi), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H.U. (Hans), Rüdiger, T. (Thomas), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Chen, S.-T. (Shou-Tung), Teo, S.-H. (Soo-Hwang), Taib, N.A.M. (Nur Aishah Mohd), Har Yip, C. (Cheng), Fuang Ho, G. (Gwo), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tajima, K. (Kazuo), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue), Yoo, K-Y. (Keun-Young), Maishman, T. (Tom), Tapper, W. (William), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Chuen Khor, C. (Chiea), Eccles, D. (Diana), Nevanlinna, H. (Heli), Easton, D.F. (Douglas), Humphreys, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), and Czene, K. (Kamila)
Abstract: Large population-based registry studies have shown that breast cancer prognosis is inherited. Here we analyse single-nucleotide polymorphisms (SNPs) of genes implicated in human immunology and inflammation as candidates for prognostic markers of breast cancer survival involving 1,804 oestrogen receptor (ER)-negative patients treated with chemotherapy (279 events) from 14 European studies in a prior large-scale genotyping experiment, which is part of the Collaborative Oncological Gene-environment Study (COGS) initiative. We carry out replication using Asian COGS samples (n=522, 53 events) and the Prospective Study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study (n=315, 108 events). Rs4458204-A near CCL20 (2q36.3) is found to be associated with breast cancer-specific death at a genome-wide significant level (n=2,641, 440 events, combined allelic hazard ratio (HR)=1.81 (1.49-2.19); P for trend=1.90 × 10 â ̂'9). Such survival-associated variants can represent ideal targets for tailored therapeutics, and may also enhance our current prognostic prediction capabilities.
Published: 2014
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49. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Author: Couch, F.J. (Fergus), McGuffog, L. (Lesley), Lee, A. (Andrew), Olswold, C. (Curtis), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Fredericksen, Z. (Zachary), Barrowdale, D. (Daniel), Dennis, J. (Joe), Gaudet, M.M. (Mia), Dicks, E. (Ed), Kosel, M. (Matthew), Healey, S. (Sue), Sinilnikova, O. (Olga), Bacot, F. (Francois), Vincent, D. (Daniel), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Jakubowska, A. (Anna), Radice, P. (Paolo), Schmutzler, R.K. (Rita), Domchek, S.M. (Susan), Piedmonte, M. (Marion), Singer, C.F. (Christian), Friedman, E. (Eitan), Thomassen, M. (Mads), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Szabo, C. (Csilla), Blanco, I. (Ignacio), Greene, M.H. (Mark), Karlan, B.Y. (Beth), Garber, J., Phelan, C. (Catherine), Weitzel, J.N. (Jeffrey), Montagna, M. (Marco), Olah, E., Andrulis, I.L. (Irene), Godwin, A.K. (Andrew), Yannoukakos, D. (Drakoulis), Goldgar, D. (David), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Terry, M.-B. (Mary-Beth), Daly, M.B. (Mary), Rensburg, E.J. (Elizabeth) van, Hamann, U. (Ute), Ramus, S.J. (Susan), Ewart-Toland, A. (Amanda), Caligo, M.A. (Maria), Olopade, O.I. (Olofunmilayo), Tung, N. (Nadine), Claes, K. (Kathleen), Beattie, M.S. (Mary), Southey, M.C. (Melissa), Imyanitov, E.N. (Evgeny), Tischkowitz, M. (Marc), Janavicius, R. (Ramunas), John, E.M. (Esther), Kwong, A. (Ava), Diez, O. (Orland), Balmana, J. (Judith), Barkardottir, R.B. (Rosa), Arun, B.K. (Banu), Rennert, G. (Gad), Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Campbell, I. (Ian), Hout, A.H. (Annemarie) van der, Deurzen, C.H.M. (Carolien) van, Seynaeve, C.M. (Caroline), Gómez García, E.B. (Encarna), Leeuwen, F.E. (Flora) van, Meijers-Heijboer, H. (Hanne), Gille, J.J. (Johan), Ausems, M.G.E.M. (Margreet), Blok, M.J. (Marinus), Ligtenberg, M.J. (Marjolijn), Rookus, M.A. (Matti), Devilee, P. (Peter), Verhoef, S., Os, T.A.M. (Theo) van, Wijnen, J.T. (Juul), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Eccles, D. (Diana), Cook, J. (Jackie), Brewer, C. (C.), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Side, L. (Lucy), Donaldson, A. (Alan), Houghton, C. (Catherine), Rogers, M.T. (Mark), Dorkins, H. (Huw), Eason, J. (Jacqueline), Gregory, H. (Helen), McCann, E. (Emma), Murray, A. (Alexandra), Calender, A. (Alain), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Delnatte, C.D. (Capucine), Nogues, C. (Catherine), Lasset, C. (Christine), Houdayer, C. (Claude), Leroux, D. (Dominique), Rouleau, E. (Etienne), Prieur, F. (Fabienne), Damiola, F. (Francesca), Sobol, H. (Hagay), Coupier, I. (Isabelle), Vénat-Bouvet, L. (Laurence), Castera, L. (Laurent), Gauthier-Villars, M. (Marion), Léone, M. (Mélanie), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Bignon, Y.-J. (Yves-Jean), Złowocka-Perłowska, E. (Elzbieta), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Spurdle, A.B. (Amanda), Viel, A. (Alessandra), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Melloni, G. (Giulia), Ottini, L. (Laura), Papi, L. (Laura), Varesco, L. (Liliana), Tibiletti, M.G. (Maria Grazia), Peterlongo, P. (Paolo), Volorio, S. (Sara), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Arnold, N. (Norbert), Engel, C. (Christoph), Deissler, H. (Helmut), Gadzicki, D. (Dorothea), Gehrig, P.A. (Paola A.), Kast, K. (Karin), Rhiem, K. (Kerstin), Meindl, A. (Alfons), Niederacher, D. (Dieter), Ditsch, N. (Nina), Plendl, H. (Hansjoerg), Preisler-Adams, S. (Sabine), Engert, S. (Stefanie), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Weber, B.H.F. (Bernhard), Arver, B. (Brita Wasteson), Stenmark-Askmalm, M. (M.), Loman, N. (Niklas), Rosenquist, R. (R.), Einbeigi, Z. (Zakaria), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Blank, S.V. (Stephanie), Cohn, D.E. (David), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Friedlander, M. (Michael), Bae-Jump, V.L. (Victoria L.), Fink-Retter, A. (Anneliese), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Lindor, N.M. (Noralane), Kaufman, B. (Bella), Shimon Paluch, S. (Shani), Laitman, Y. (Yael), Skytte, A.-B. (Anne-Bine), Gerdes, A-M. (Anne-Marie), Pedersen, I.S. (Inge Sokilde), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Vijai, J. (Joseph), Sarrel, K. (Kara), Robson, M. (Mark), Kauff, N. (Noah), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Ejlertsen, B. (Bent), Nielsen, F.C. (Finn), Jønson, L. (Lars), Andersen, M.K. (Mette), Ding, Y.C. (Yuan), Steele, L. (Linda), Foretova, L. (Lenka), Teulé, A. (A.), Lázaro, C. (Conxi), Brunet, J. (Joan), Pujana, M.A. (Miguel), Mai, P.L. (Phuong), Loud, J.T. (Jennifer), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Orsulic, S. (Sandra), Narod, S. (Steven), Herzog, J. (Josef), Sand, S.R. (Sharon), Tognazzo, S. (Silvia), Agata, S. (Simona), Vaszko, T. (Tibor), Weaver, J. (JoEllen), Stavropoulou, A. (Alexandra), Buys, S.S. (Saundra), Romero, A. (Alfonso), Hoya, M. (Miguel) de La, Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Durán, M. (Mercedes), Chung, W.K. (Wendy), Lasa, A. (Adriana), Dorfling, C.M. (Cecelia), Miron, A. (Alexander), Benítez, J. (Javier), Senter, L. (Leigha), Huo, D. (Dezheng), Chan, S. (Salina), Sokolenko, A. (Anna), Chiquette, J. (Jocelyne), Tihomirova, L. (Laima), Friebel, M.O.W. (Mark ), Agnarsson, B.A. (Bjarni), Lu, K.H. (Karen), Lejbkowicz, F. (Flavio), James, P.A. (Paul ), Hall, A.S. (Alistair), Dunning, A.M. (Alison), Tessier, Y. (Yann), Cunningham, J. (Jane), Slager, S. (Susan), Wang, C. (Chen), Hart, S. (Stewart), Stevens, K. (Kristen), Simard, J. (Jacques), Pastinen, T. (Tomi), Pankratz, V.S. (Shane), Offit, K. (Kenneth), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Thorne, H. (Heather), Niedermayr, E. (Eveline), Borg, Å. (Åke), Olsson, H., Jernström, H. (H.), Henriksson, K. (Karin), Harbst, K. (Katja), Soller, M. (Maria), Kristoffersson, U. (Ulf), Wang, X. (Xianshu), Öfverholm, A. (Anna), Nordling, M. (Margareta), Karlsson, P. (Per), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Lindblom, A. (Annika), Bustinza, G.B., Rantala, J. (Johanna), Melin, B. (Beatrice), Ardnor, C.E. (Christina Edwinsdotter), Emanuelsson, M. (Monica), Ehrencrona, H. (Hans), Pigg, M.H. (Maritta ), Liedgren, S. (Sigrun), Rookus, M.A. (M.), Verhoef, S. (S.), Schmidt, M.K. (Marjanka), Lange, J.L. (J.) de, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gomez Garcia, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Anna), Kennedy, M.J. (John), Barton, D.E. (David), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Davidson, R. (Rosemarie), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Brady, A.F. (Angela), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Lalloo, F. (Fiona), Taylor, J. (James), Male, A. (Alison), Berlin, C. (Cheryl), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Stormorken, A. (Astrid), Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Killick, S.R., Martin, S. (Sue), Rea, D. (Dan), Kulkarni, A. (Anjana), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Barjhoux, L. (Laure), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Buecher, B. (Bruno), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Uhrhammer, N. (Nancy), Bonadona, V. (Valérie), Handallou, S. (Sandrine), hardouin, A. (Agnès), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Lidereau, R. (Rosette), Demange, L. (Liliane), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Coron, F. (Fanny), Faivre, L. (Laurence), Lebrun, M. (Marine), Kientz, C. (Caroline), Ferrer, S.F., Frenay, M. (Marc), Mortemousque, I. (Isabelle), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Sokolowska, J. (Johanna), Bronner, M. (Myriam), Lynch, H. (Henry), Snyder, C.L. (Carrie), Angelakos, M. (Maggie), Maskiell, J. (Judi), Dite, G.S. (Gillian), Couch, F.J. (Fergus), McGuffog, L. (Lesley), Lee, A. (Andrew), Olswold, C. (Curtis), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Fredericksen, Z. (Zachary), Barrowdale, D. (Daniel), Dennis, J. (Joe), Gaudet, M.M. (Mia), Dicks, E. (Ed), Kosel, M. (Matthew), Healey, S. (Sue), Sinilnikova, O. (Olga), Bacot, F. (Francois), Vincent, D. (Daniel), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Jakubowska, A. (Anna), Radice, P. (Paolo), Schmutzler, R.K. (Rita), Domchek, S.M. (Susan), Piedmonte, M. (Marion), Singer, C.F. (Christian), Friedman, E. (Eitan), Thomassen, M. (Mads), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Szabo, C. (Csilla), Blanco, I. (Ignacio), Greene, M.H. (Mark), Karlan, B.Y. (Beth), Garber, J., Phelan, C. (Catherine), Weitzel, J.N. (Jeffrey), Montagna, M. (Marco), Olah, E., Andrulis, I.L. (Irene), Godwin, A.K. (Andrew), Yannoukakos, D. (Drakoulis), Goldgar, D. (David), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Terry, M.-B. (Mary-Beth), Daly, M.B. (Mary), Rensburg, E.J. (Elizabeth) van, Hamann, U. (Ute), Ramus, S.J. (Susan), Ewart-Toland, A. (Amanda), Caligo, M.A. (Maria), Olopade, O.I. (Olofunmilayo), Tung, N. (Nadine), Claes, K. (Kathleen), Beattie, M.S. (Mary), Southey, M.C. (Melissa), Imyanitov, E.N. (Evgeny), Tischkowitz, M. (Marc), Janavicius, R. (Ramunas), John, E.M. (Esther), Kwong, A. (Ava), Diez, O. (Orland), Balmana, J. (Judith), Barkardottir, R.B. (Rosa), Arun, B.K. (Banu), Rennert, G. (Gad), Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Campbell, I. (Ian), Hout, A.H. (Annemarie) van der, Deurzen, C.H.M. (Carolien) van, Seynaeve, C.M. (Caroline), Gómez García, E.B. (Encarna), Leeuwen, F.E. (Flora) van, Meijers-Heijboer, H. (Hanne), Gille, J.J. (Johan), Ausems, M.G.E.M. (Margreet), Blok, M.J. (Marinus), Ligtenberg, M.J. (Marjolijn), Rookus, M.A. (Matti), Devilee, P. (Peter), Verhoef, S., Os, T.A.M. (Theo) van, Wijnen, J.T. (Juul), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Eccles, D. (Diana), Cook, J. (Jackie), Brewer, C. (C.), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Side, L. (Lucy), Donaldson, A. (Alan), Houghton, C. (Catherine), Rogers, M.T. (Mark), Dorkins, H. (Huw), Eason, J. (Jacqueline), Gregory, H. (Helen), McCann, E. (Emma), Murray, A. (Alexandra), Calender, A. (Alain), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Delnatte, C.D. (Capucine), Nogues, C. (Catherine), Lasset, C. (Christine), Houdayer, C. (Claude), Leroux, D. (Dominique), Rouleau, E. (Etienne), Prieur, F. (Fabienne), Damiola, F. (Francesca), Sobol, H. (Hagay), Coupier, I. (Isabelle), Vénat-Bouvet, L. (Laurence), Castera, L. (Laurent), Gauthier-Villars, M. (Marion), Léone, M. (Mélanie), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Bignon, Y.-J. (Yves-Jean), Złowocka-Perłowska, E. (Elzbieta), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Spurdle, A.B. (Amanda), Viel, A. (Alessandra), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Melloni, G. (Giulia), Ottini, L. (Laura), Papi, L. (Laura), Varesco, L. (Liliana), Tibiletti, M.G. (Maria Grazia), Peterlongo, P. (Paolo), Volorio, S. (Sara), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Arnold, N. (Norbert), Engel, C. (Christoph), Deissler, H. (Helmut), Gadzicki, D. (Dorothea), Gehrig, P.A. (Paola A.), Kast, K. (Karin), Rhiem, K. (Kerstin), Meindl, A. (Alfons), Niederacher, D. (Dieter), Ditsch, N. (Nina), Plendl, H. (Hansjoerg), Preisler-Adams, S. (Sabine), Engert, S. (Stefanie), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Weber, B.H.F. (Bernhard), Arver, B. (Brita Wasteson), Stenmark-Askmalm, M. (M.), Loman, N. (Niklas), Rosenquist, R. (R.), Einbeigi, Z. (Zakaria), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Blank, S.V. (Stephanie), Cohn, D.E. (David), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Friedlander, M. (Michael), Bae-Jump, V.L. (Victoria L.), Fink-Retter, A. (Anneliese), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Lindor, N.M. (Noralane), Kaufman, B. (Bella), Shimon Paluch, S. (Shani), Laitman, Y. (Yael), Skytte, A.-B. (Anne-Bine), Gerdes, A-M. (Anne-Marie), Pedersen, I.S. (Inge Sokilde), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Vijai, J. (Joseph), Sarrel, K. (Kara), Robson, M. (Mark), Kauff, N. (Noah), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Ejlertsen, B. (Bent), Nielsen, F.C. (Finn), Jønson, L. (Lars), Andersen, M.K. (Mette), Ding, Y.C. (Yuan), Steele, L. (Linda), Foretova, L. (Lenka), Teulé, A. (A.), Lázaro, C. (Conxi), Brunet, J. (Joan), Pujana, M.A. (Miguel), Mai, P.L. (Phuong), Loud, J.T. (Jennifer), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Orsulic, S. (Sandra), Narod, S. (Steven), Herzog, J. (Josef), Sand, S.R. (Sharon), Tognazzo, S. (Silvia), Agata, S. (Simona), Vaszko, T. (Tibor), Weaver, J. (JoEllen), Stavropoulou, A. (Alexandra), Buys, S.S. (Saundra), Romero, A. (Alfonso), Hoya, M. (Miguel) de La, Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Durán, M. (Mercedes), Chung, W.K. (Wendy), Lasa, A. (Adriana), Dorfling, C.M. (Cecelia), Miron, A. (Alexander), Benítez, J. (Javier), Senter, L. (Leigha), Huo, D. (Dezheng), Chan, S. (Salina), Sokolenko, A. (Anna), Chiquette, J. (Jocelyne), Tihomirova, L. (Laima), Friebel, M.O.W. (Mark ), Agnarsson, B.A. (Bjarni), Lu, K.H. (Karen), Lejbkowicz, F. (Flavio), James, P.A. (Paul ), Hall, A.S. (Alistair), Dunning, A.M. (Alison), Tessier, Y. (Yann), Cunningham, J. (Jane), Slager, S. (Susan), Wang, C. (Chen), Hart, S. (Stewart), Stevens, K. (Kristen), Simard, J. (Jacques), Pastinen, T. (Tomi), Pankratz, V.S. (Shane), Offit, K. (Kenneth), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Thorne, H. (Heather), Niedermayr, E. (Eveline), Borg, Å. (Åke), Olsson, H., Jernström, H. (H.), Henriksson, K. (Karin), Harbst, K. (Katja), Soller, M. (Maria), Kristoffersson, U. (Ulf), Wang, X. (Xianshu), Öfverholm, A. (Anna), Nordling, M. (Margareta), Karlsson, P. (Per), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Lindblom, A. (Annika), Bustinza, G.B., Rantala, J. (Johanna), Melin, B. (Beatrice), Ardnor, C.E. (Christina Edwinsdotter), Emanuelsson, M. (Monica), Ehrencrona, H. (Hans), Pigg, M.H. (Maritta ), Liedgren, S. (Sigrun), Rookus, M.A. (M.), Verhoef, S. (S.), Schmidt, M.K. (Marjanka), Lange, J.L. (J.) de, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gomez Garcia, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Anna), Kennedy, M.J. (John), Barton, D.E. (David), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Davidson, R. (Rosemarie), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Brady, A.F. (Angela), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Lalloo, F. (Fiona), Taylor, J. (James), Male, A. (Alison), Berlin, C. (Cheryl), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Stormorken, A. (Astrid), Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Killick, S.R., Martin, S. (Sue), Rea, D. (Dan), Kulkarni, A. (Anjana), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Barjhoux, L. (Laure), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Buecher, B. (Bruno), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Uhrhammer, N. (Nancy), Bonadona, V. (Valérie), Handallou, S. (Sandrine), hardouin, A. (Agnès), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Lidereau, R. (Rosette), Demange, L. (Liliane), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Coron, F. (Fanny), Faivre, L. (Laurence), Lebrun, M. (Marine), Kientz, C. (Caroline), Ferrer, S.F., Frenay, M. (Marc), Mortemousque, I. (Isabelle), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Sokolowska, J. (Johanna), Bronner, M. (Myriam), Lynch, H. (Henry), Snyder, C.L. (Carrie), Angelakos, M. (Maggie), Maskiell, J. (Judi), and Dite, G.S. (Gillian)
Abstract: BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associati
Published: 2013
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50. A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

Author: Ding, Y.C. (Yuan), McGuffog, L. (Lesley), Healey, S. (Sue), Friedman, E. (Eitan), Laitman, Y. (Yael), Shimon, S.-P. (Shani-Paluch), Kaufman, B. (Bella), Liljegren, A. (Annelie), Lindblom, A. (Annika), Olsson, H., Kristoffersson, U. (Ulf), Stenmark-Askmalm, M. (M.), Melin, B. (Beatrice), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Gronwald, J. (Jacek), Huzarski, T. (Tomasz), Cybulski, C. (Cezary), Byrski, T. (Tomasz), Osorio, A. (Ana), Cajal, T.R., Stavropoulou, A. (Alexandra), Benítez, J. (Javier), Hamann, U. (Ute), Rookus, M.A. (Matti), Aalfs, C.M. (Cora), Lange, J.L. (J.) de, Meijers-Heijboer, E.J. (Hanne), Oosterwijk, J.C. (Jan), Asperen, C.J. (Christi) van, Gómez García, E.B. (Encarna), Hoogerbrugge, N. (Nicoline), Jager, A. (Agnes), Luijt, R.B. (Rob) van der, Easton, D.F. (Douglas), Peock, S. (Susan), Frost, D. (Debra), Ellis, S.D. (Steve), Platte, R. (Radka), Fineberg, E. (Elena), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Davidson, R. (Rosemarie), Eccles, D. (Diana), Cole, T.J. (Trevor), Cook, J. (Jackie), Brewer, C. (Carole), Tischkowitz, M. (Marc), Godwin, A.K. (Andrew), Pathak, S.S., Stoppa-Lyonnet, D. (Dominique), Sinilnikova, O. (Olga), Mazoyer, S. (Sylvie), Barjhoux, L. (Laure), Léone, M. (Mélanie), Gauthier-Villars, M. (Marion), Caux-Moncoutier, V. (Virginie), Pauw, A. (Antoine) de, Hardouin, A. (Agnès), Berthet, P. (Pascaline), Dreyfus, H. (Hélène), Ferrer, S.F., Collonge-Rame, M.-A., Sokolowska, J. (Johanna), Buys, S.S. (Saundra), Daly, M.B. (Mary), Miron, A. (Alexander), Terry, M.-B. (Mary-Beth), Chung, W. (Wendy), John, E.M. (Esther), Southey, M.C. (Melissa), Goldgar, D. (David), Singer, C.F. (Christian), Tea, M.-K., Gschwantler-Kaulich, D. (Daphne), Fink-Retter, A. (Anneliese), Hansen, T.V.O. (Thomas), Ejlertsen, B. (Bent), Johannson, O.T. (Oskar), Offit, K. (Kenneth), Sarrel, K. (Kara), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Robson, M. (Mark), Piedmonte, M. (Marion), Andrews, L. (Lesley), Cohn, D.E. (David), DeMars, L.R. (Leslie), DiSilvestro, P. (Paul), Rodriguez, G.C. (Gustavo), Toland, A.E. (Amanda), Montagna, M. (Marco), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Ramus, S.J. (Susan), Sucheston, L. (Lara), Karlan, B.Y. (Beth), Gross, J. (Jenny), Ganz, P.A. (Patricia), Beattie, M.S. (Mary), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Meindl, A. (Alfons), Arnold, N. (Norbert), Niederacher, D. (Dieter), Preisler-Adams, S. (Sabine), Gadzicki, D. (Dorothea), Varon-Mateeva, R. (Raymonda), Deissler, H. (Helmut), Gehrig, P.A. (Paola A.), Sutter, C. (Christian), Kast, K. (Karin), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Simard, J. (Jacques), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Tomlinson, G. (Gail), Weitzel, J.N. (Jeffrey), Garber, J., Olopade, O.I. (Olofunmilayo), Rubinstein, W.S. (Wendy), Tung, N. (Nadine), Blum, J.L. (Joanne), Narod, S. (Steven), Brummel, S. (Sean), Gillen, D.L. (Daniel), Lindor, N.M. (Noralane), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Couch, F.J. (Fergus), Radice, P. (Paolo), Peterlongo, P. (Paolo), Greene, M.H. (Mark), Loud, J.T. (Jennifer), Mai, P.L. (Phuong), Andrulis, I.L. (Irene), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Gerdes, A-M. (Anne-Marie), Thomassen, M. (Mads), Jensen, U.B., Skytte, A.-B. (Anne-Bine), Caligo, M.A. (Maria), Lee, A. (Andrew), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), McGuffog, L. (Lesley), Healey, S. (Sue), Friedman, E. (Eitan), Laitman, Y. (Yael), Shimon, S.-P. (Shani-Paluch), Kaufman, B. (Bella), Liljegren, A. (Annelie), Lindblom, A. (Annika), Olsson, H., Kristoffersson, U. (Ulf), Stenmark-Askmalm, M. (M.), Melin, B. (Beatrice), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Gronwald, J. (Jacek), Huzarski, T. (Tomasz), Cybulski, C. (Cezary), Byrski, T. (Tomasz), Osorio, A. (Ana), Cajal, T.R., Stavropoulou, A. (Alexandra), Benítez, J. (Javier), Hamann, U. (Ute), Rookus, M.A. (Matti), Aalfs, C.M. (Cora), Lange, J.L. (J.) de, Meijers-Heijboer, E.J. (Hanne), Oosterwijk, J.C. (Jan), Asperen, C.J. (Christi) van, Gómez García, E.B. (Encarna), Hoogerbrugge, N. (Nicoline), Jager, A. (Agnes), Luijt, R.B. (Rob) van der, Easton, D.F. (Douglas), Peock, S. (Susan), Frost, D. (Debra), Ellis, S.D. (Steve), Platte, R. (Radka), Fineberg, E. (Elena), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Davidson, R. (Rosemarie), Eccles, D. (Diana), Cole, T.J. (Trevor), Cook, J. (Jackie), Brewer, C. (Carole), Tischkowitz, M. (Marc), Godwin, A.K. (Andrew), Pathak, S.S., Stoppa-Lyonnet, D. (Dominique), Sinilnikova, O. (Olga), Mazoyer, S. (Sylvie), Barjhoux, L. (Laure), Léone, M. (Mélanie), Gauthier-Villars, M. (Marion), Caux-Moncoutier, V. (Virginie), Pauw, A. (Antoine) de, Hardouin, A. (Agnès), Berthet, P. (Pascaline), Dreyfus, H. (Hélène), Ferrer, S.F., Collonge-Rame, M.-A., Sokolowska, J. (Johanna), Buys, S.S. (Saundra), Daly, M.B. (Mary), Miron, A. (Alexander), Terry, M.-B. (Mary-Beth), Chung, W. (Wendy), John, E.M. (Esther), Southey, M.C. (Melissa), Goldgar, D. (David), Singer, C.F. (Christian), Tea, M.-K., Gschwantler-Kaulich, D. (Daphne), Fink-Retter, A. (Anneliese), Hansen, T.V.O. (Thomas), Ejlertsen, B. (Bent), Johannson, O.T. (Oskar), Offit, K. (Kenneth), Sarrel, K. (Kara), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Robson, M. (Mark), Piedmonte, M. (Marion), Andrews, L. (Lesley), Cohn, D.E. (David), DeMars, L.R. (Leslie), DiSilvestro, P. (Paul), Rodriguez, G.C. (Gustavo), Toland, A.E. (Amanda), Montagna, M. (Marco), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Ramus, S.J. (Susan), Sucheston, L. (Lara), Karlan, B.Y. (Beth), Gross, J. (Jenny), Ganz, P.A. (Patricia), Beattie, M.S. (Mary), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Meindl, A. (Alfons), Arnold, N. (Norbert), Niederacher, D. (Dieter), Preisler-Adams, S. (Sabine), Gadzicki, D. (Dorothea), Varon-Mateeva, R. (Raymonda), Deissler, H. (Helmut), Gehrig, P.A. (Paola A.), Sutter, C. (Christian), Kast, K. (Karin), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Simard, J. (Jacques), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Tomlinson, G. (Gail), Weitzel, J.N. (Jeffrey), Garber, J., Olopade, O.I. (Olofunmilayo), Rubinstein, W.S. (Wendy), Tung, N. (Nadine), Blum, J.L. (Joanne), Narod, S. (Steven), Brummel, S. (Sean), Gillen, D.L. (Daniel), Lindor, N.M. (Noralane), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Couch, F.J. (Fergus), Radice, P. (Paolo), Peterlongo, P. (Paolo), Greene, M.H. (Mark), Loud, J.T. (Jennifer), Mai, P.L. (Phuong), Andrulis, I.L. (Irene), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Gerdes, A-M. (Anne-Marie), Thomassen, M. (Mads), Jensen, U.B., Skytte, A.-B. (Anne-Bine), Caligo, M.A. (Maria), Lee, A. (Andrew), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), and Neuhausen, S.L. (Susan)
Abstract: Background: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk inwomen carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers. Methods: IRS1
Published: 2012
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