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19 results on '"Rahman, N. (Nazneen)"'

1. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Author: Wu, L. (Lang), Shi, W. (Wei), Long, J. (Jirong), Guo, X. (Xingyi), Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Bolla, M. K. (Manjeet K.), Shu, X.-O. (Xiao-Ou), Lu, Y. (Yingchang), Cai, Q. (Qiuyin), Al-Ejeh, F. (Fares), Rozali, E. (Esdy), Wang, Q. (Qin), Dennis, J. (Joe), Li, B. (Bingshan), Zeng, C. (Chenjie), Feng, H. (Helian), Gusev, A. (Alexander), Barfield, R. T. (Richard T.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Barrdahl, M. (Myrto), Baynes, C. (Caroline), Beckmann, M. W. (Matthias W.), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L. (Louise), Broberg, P. (Per), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldes, T. (Trinidad), Canzian, F. (Federico), Carter, B. D. (Brian D.), Castelao, J. E. (J. Esteban), Chang-Claude, J. (Jenny), Chen, X. (Xiaoqing), Cheng, T. D. (Ting-Yuan David), Christiansen, H. (Hans), Clarke, C. L. (Christine L.), Collee, M. (Margriet), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, D. (David), Cox, A. (Angela), Cross, S. S. (Simon S.), Cunningham, J. M. (Julie M.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doheny, K. F. (Kimberly F.), Dork, T. (Thilo), dos-Santos-Silva, I. (Isabel), Dumont, M. (Martine), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Eilber, U. (Ursula), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Eriksson, M. (Mikael), Fachal, L. (Laura), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Gaudet, M. M. (Mia M.), Ghoussaini, M. (Maya), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hallberg, E. (Emily), Hamann, U. (Ute), Harrington, P. (Patricia), Hein, A. (Alexander), Hicks, B. (Belynda), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, K. (Kristine), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kerin, M. J. (Michael J.), Khusnutdinova, E. (Elza), Kosma, V.-M. (Veli-Matti), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Lubinski, J. (Jan), Luccarini, C. (Craig), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maishman, T. (Tom), Kostovska, I. M. (Ivana Maleva), Mannermaa, A. (Arto), Manson, J. E. (Joann E.), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Meijers-Heijboer, H. (Hanne), Meindl, A. (Alfons), Menon, U. (Usha), Meyer, J. (Jeffery), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olopade, O. I. (Olufunmilayo I.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Prentice, R. (Ross), Presneau, N. (Nadege), Pylkäs, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Rahman, N. (Nazneen), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Romm, J. (Jane), Rudolph, A. (Anja), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Scott, R. J. (Rodney J.), Scott, C. G. (Christopher G.), Seal, S. (Sheila), Shah, M. (Mitul), Shrubsole, M. J. (Martha J.), Smeets, A. (Ann), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. (William), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Tessier, D. C. (Daniel C.), Thomas, A. (Abigail), Thone, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Torres, D. (Diana), Truong, T. (Therese), Untch, M. (Michael), Vachon, C. (Celine), Van den Berg, D. (David), Vincent, D. (Daniel), Waisfisz, Q. (Quinten), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Wildiers, H. (Hans), Willett, W. C. (Walter C.), Winqvist, R. (Robert), Wolk, A. (Alicja), Xia, L. (Lucy), Yang, X. R. (Xiaohong R.), Ziogas, A. (Argyrios), Ziv, E. (Elad), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Simard, J. (Jacques), Milne, R. L. (Roger L.), Edwards, S. L. (Stacey L.), Kraft, P. (Peter), Easton, D. F. (Douglas F.), Chenevix-Trench, G. (Georgia), Zheng, W. (Wei), Wu, L. (Lang), Shi, W. (Wei), Long, J. (Jirong), Guo, X. (Xingyi), Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Bolla, M. K. (Manjeet K.), Shu, X.-O. (Xiao-Ou), Lu, Y. (Yingchang), Cai, Q. (Qiuyin), Al-Ejeh, F. (Fares), Rozali, E. (Esdy), Wang, Q. (Qin), Dennis, J. (Joe), Li, B. (Bingshan), Zeng, C. (Chenjie), Feng, H. (Helian), Gusev, A. (Alexander), Barfield, R. T. (Richard T.), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Barrdahl, M. (Myrto), Baynes, C. (Caroline), Beckmann, M. W. (Matthias W.), Benitez, J. (Javier), Bermisheva, M. (Marina), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia V.), Bojesen, S. E. (Stig E.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L. (Louise), Broberg, P. (Per), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldes, T. (Trinidad), Canzian, F. (Federico), Carter, B. D. (Brian D.), Castelao, J. E. (J. Esteban), Chang-Claude, J. (Jenny), Chen, X. (Xiaoqing), Cheng, T. D. (Ting-Yuan David), Christiansen, H. (Hans), Clarke, C. L. (Christine L.), Collee, M. (Margriet), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, D. (David), Cox, A. (Angela), Cross, S. S. (Simon S.), Cunningham, J. M. (Julie M.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doheny, K. F. (Kimberly F.), Dork, T. (Thilo), dos-Santos-Silva, I. (Isabel), Dumont, M. (Martine), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Eilber, U. (Ursula), Eliassen, A. H. (A. Heather), Engel, C. (Christoph), Eriksson, M. (Mikael), Fachal, L. (Laura), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Gaudet, M. M. (Mia M.), Ghoussaini, M. (Maya), Giles, G. G. (Graham G.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Guenel, P. (Pascal), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hallberg, E. (Emily), Hamann, U. (Ute), Harrington, P. (Patricia), Hein, A. (Alexander), Hicks, B. (Belynda), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, K. (Kristine), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kerin, M. J. (Michael J.), Khusnutdinova, E. (Elza), Kosma, V.-M. (Veli-Matti), Kristensen, V. N. (Vessela N.), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Lubinski, J. (Jan), Luccarini, C. (Craig), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maishman, T. (Tom), Kostovska, I. M. (Ivana Maleva), Mannermaa, A. (Arto), Manson, J. E. (Joann E.), Margolin, S. (Sara), Mavroudis, D. (Dimitrios), Meijers-Heijboer, H. (Hanne), Meindl, A. (Alfons), Menon, U. (Usha), Meyer, J. (Jeffery), Mulligan, A. M. (Anna Marie), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Olopade, O. I. (Olufunmilayo I.), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Peterlongo, P. (Paolo), Peto, J. (Julian), Plaseska-Karanfilska, D. (Dijana), Prentice, R. (Ross), Presneau, N. (Nadege), Pylkäs, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Rahman, N. (Nazneen), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Romm, J. (Jane), Rudolph, A. (Anja), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, M. K. (Marjanka K.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Scott, R. J. (Rodney J.), Scott, C. G. (Christopher G.), Seal, S. (Sheila), Shah, M. (Mitul), Shrubsole, M. J. (Martha J.), Smeets, A. (Ann), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Surowy, H. (Harald), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. (William), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Tessier, D. C. (Daniel C.), Thomas, A. (Abigail), Thone, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Torres, D. (Diana), Truong, T. (Therese), Untch, M. (Michael), Vachon, C. (Celine), Van den Berg, D. (David), Vincent, D. (Daniel), Waisfisz, Q. (Quinten), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Wildiers, H. (Hans), Willett, W. C. (Walter C.), Winqvist, R. (Robert), Wolk, A. (Alicja), Xia, L. (Lucy), Yang, X. R. (Xiaohong R.), Ziogas, A. (Argyrios), Ziv, E. (Elad), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Simard, J. (Jacques), Milne, R. L. (Roger L.), Edwards, S. L. (Stacey L.), Kraft, P. (Peter), Easton, D. F. (Douglas F.), Chenevix-Trench, G. (Georgia), and Zheng, W. (Wei)
Abstract: The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study evaluating associations of genetically predicted gene expression with breast cancer risk in 122,977 cases and 105,974 controls of European ancestry. We used data from the Genotype-Tissue Expression Project to establish genetic models to predict gene expression in breast tissue and evaluated model performance using data from The Cancer Genome Atlas. Of the 8,597 genes evaluated, significant associations were identified for 48 at a Bonferroni-corrected threshold of P < 5.82 × 10−6, including 14 genes at loci not yet reported for breast cancer. We silenced 13 genes and showed an effect for 11 on cell proliferation and/or colony-forming efficiency. Our study provides new insights into breast cancer genetics and biology.
Published: 2018

2. 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

3. 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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4. 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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5. 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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6. 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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7. Identification of novel genetic markers of breast cancer survival

Author: Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Kraft, P. (Peter), Canisius, S. (Sander), Chen, C. (Constance), Khan, S. (Sofia), Tyrer, J.P. (Jonathan), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Lush, M. (Michael), Kar, S. (Siddhartha), Beesley, J. (Jonathan), Dunning, A.M. (Alison), Shah, M. (Mitul), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Lambrechts, D. (Diether), Weltens, C. (Caroline), Leunen, K., Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Fagerholm, R. (Rainer), Muranen, T.A. (Taru), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Hopper, J. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Giles, G.G. (Graham G.), Milne, R.L. (Roger L.), McLean, C.A. (Catriona Ann), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Ouweland, A.M.W. (Ans) van den, Marme, F. (Federick), Schneeweiss, A. (Andreas), Yang, R. (Rongxi), Burwinkel, B. (Barbara), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Holleczek, B. (B.), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Mariani, P. (Paolo), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Hein, R. (Rebecca), Ekici, A.B. (Arif), Chenevix-Trench, G. (Georgia), Balleine, R. (Rosemary), Phillips, K.-A. (Kelly-Anne), 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), Hamann, U. (Ute), Kabisch, M. (Maria), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Margolin, S. (Sara), Kristensen, V. (Vessela), Nord, S. (Silje), Evans, D.G. (Gareth), Abraham, J. (Jean), Earl, H. (Helena), Hiller, L. (Louise), Dunn, J.A. (J.), Bowden, S. (Sarah), Berg, C.D. (Christine), Campa, D. (Daniele), Diver, W.R. (Ryan), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Hankinson, S.E. (Susan), Hoover, R.N. (Robert), Hüsing, A. (Anika), Kaaks, R. (Rudolf), Machiela, M.J. (Mitchell J.), Willett, W.C. (Walter C.), Barrdahl, M. (Myrto), Canzian, F. (Federico), Chin, S.-F. (Suet-Feung), Caldas, C. (Carlos), Hunter, D. (David), Lindstrom, S. (Stephen), García-Closas, M. (Montserrat), Hall, P. (Per), Easton, D.F. (Douglas), Eccles, D. (Diana), Rahman, N. (Nazneen), Nevanlinna, H. (Heli), Pharoah, P.D.P. (Paul), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Kraft, P. (Peter), Canisius, S. (Sander), Chen, C. (Constance), Khan, S. (Sofia), Tyrer, J.P. (Jonathan), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Lush, M. (Michael), Kar, S. (Siddhartha), Beesley, J. (Jonathan), Dunning, A.M. (Alison), Shah, M. (Mitul), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Lambrechts, D. (Diether), Weltens, C. (Caroline), Leunen, K., Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Fagerholm, R. (Rainer), Muranen, T.A. (Taru), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Hopper, J. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Giles, G.G. (Graham G.), Milne, R.L. (Roger L.), McLean, C.A. (Catriona Ann), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Ouweland, A.M.W. (Ans) van den, Marme, F. (Federick), Schneeweiss, A. (Andreas), Yang, R. (Rongxi), Burwinkel, B. (Barbara), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Holleczek, B. (B.), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Mariani, P. (Paolo), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Hein, R. (Rebecca), Ekici, A.B. (Arif), Chenevix-Trench, G. (Georgia), Balleine, R. (Rosemary), Phillips, K.-A. (Kelly-Anne), 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), Hamann, U. (Ute), Kabisch, M. (Maria), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Margolin, S. (Sara), Kristensen, V. (Vessela), Nord, S. (Silje), Evans, D.G. (Gareth), Abraham, J. (Jean), Earl, H. (Helena), Hiller, L. (Louise), Dunn, J.A. (J.), Bowden, S. (Sarah), Berg, C.D. (Christine), Campa, D. (Daniele), Diver, W.R. (Ryan), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Hankinson, S.E. (Susan), Hoover, R.N. (Robert), Hüsing, A. (Anika), Kaaks, R. (Rudolf), Machiela, M.J. (Mitchell J.), Willett, W.C. (Walter C.), Barrdahl, M. (Myrto), Canzian, F. (Federico), Chin, S.-F. (Suet-Feung), Caldas, C. (Carlos), Hunter, D. (David), Lindstrom, S. (Stephen), García-Closas, M. (Montserrat), Hall, P. (Per), Easton, D.F. (Douglas), Eccles, D. (Diana), Rahman, N. (Nazneen), Nevanlinna, H. (Heli), and Pharoah, P.D.P. (Paul)
Abstract: Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer-specific survival. Methods: We conducted a large meta-analysis of studies in populations of European ancestry, including 37954 patients with 2900 deaths from breast cancer. Each study had been genotyped for between 200000 and 900000 single nucleotide polymorphisms (SNPs) across the genome; genotypes for nine million common variants were imputed using a common reference panel from the 1000 Genomes Project. We also carried out subtype-specific analyses based on 6881 estrogen receptor (ER)-negative patients (920 events) and 23059 ER-positive patients (1333 events). All statistical tests were two-sided. Results: We identified one new locus (rs2059614 at 11q24.2) associated with survival in ER-negative breast cancer cases (hazard ratio [HR] = 1.95, 95% confidence interval [CI] = 1.55 to 2.47, P = 1.91 x 10-8). Genotyping a subset of 2113 case patients, of which 300 were ER negative, provided supporting evidence for the quality of the imputation. The association in this set of case patients was stronger for the observed genotypes than for the imputed genotypes. A second locus (rs148760487 at 2q24.2) was associated at genome-wide statistical significance in initial analyses; the association was similar in ER-positive and ER-negative case patients. Here the results of genotyping suggested that the finding was less robust. Conclusions: This is currently the largest study investigating genetic variation associated with breast cancer survival. Our results have potential clinical implications, as they confirm that germline genotype can provide prognostic information in addition to standard tumor prognostic factors.
Published: 2015
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8. Common germline polymorphisms associated with breast cancer-specific survival

Author: Pirie, A. (Ailith), Guo, Q. (Qi), Kraft, P. (Peter), Canisius, S. (Sander), Eccles, D. (Diana), Rahman, N. (Nazneen), Nevanlinna, H. (Heli), Chen, C. (Constance), Khan, S. (Sofia), Tyrer, J.P. (Jonathan), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Lush, M. (Michael), Dunning, A.M. (Alison), Shah, M. (Mitul), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Lambrechts, D. (Diether), Weltens, C. (Caroline), Leunen, K., van Ongeval, C. (Chantal), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Fagerholm, R. (Rainer), Muranen, T.A. (Taru), Olsen, J.E. (Janet E.), Hallberg, B. (Boubou), Vachon, C. (Celine), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Broeks, A. (Annegien), Cornelissen, S. (Sten), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F. (Frederick), Le Marchand, L. (Loic), Hopper, J.L. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Ouweland, A.M.W. (Ans) van den, Marme, F. (Federick), Schneeweiss, A. (Andreas), Yang, R. (Rongxi), Burwinkel, B. (Barbara), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Brenner, H. (Hermann), Butterbach, K. (Katja), Holleczek, B. (B.), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Ficarazzi, F. (Filomena), Beckmann, M.W. (Matthias), Hein, R. (Rebecca), Ekici, A.B. (Arif), Balleine, R. (Rosemary), Phillips, K.-A. (Kelly-Anne), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Durda, K. (Katarzyna), Hamann, U. (Ute), Kabisch, M. (Maria), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Margolin, S. (Sara), Kristensen, V. (Vessela), Nord, S. (Siljie), Evans, D.G. (Gareth), Abraham, J. (Jean), Earl, H. (Helena), Poole, C.J. (Christopher J.), Hiller, L. (Louise), Dunn, J.A. (J.), Bowden, S. (Sarah), Yang, R. (Rose), Campa, D. (Daniele), Diver, W.R. (Ryan), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Hankinson, S.E. (Susan), Hoover, R.N. (Robert), Hüsing, A. (Anika), Kaaks, R. (Rudolf), Machiela, M.J. (Mitchell J.), Willett, W.C. (Walter C.), Barrdahl, M. (Myrto), Canzian, F. (Federico), Chin, S.-F. (Suet-Feung), Caldas, C. (Carlos), Hunter, D. (David), Lindstrom, S. (Stephen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Chenevix-Trench, G. (Georgia), Mannermaa, A. (Arto), Andrulis, I.L. (Irene), Hall, P. (Per), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Bojesen, S.E. (Stig), Cox, A. (Angela), Fasching, P.A. (Peter), Pharoah, P.D.P. (Paul), Schmidt, M.K. (Marjanka), Pirie, A. (Ailith), Guo, Q. (Qi), Kraft, P. (Peter), Canisius, S. (Sander), Eccles, D. (Diana), Rahman, N. (Nazneen), Nevanlinna, H. (Heli), Chen, C. (Constance), Khan, S. (Sofia), Tyrer, J.P. (Jonathan), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Lush, M. (Michael), Dunning, A.M. (Alison), Shah, M. (Mitul), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Lambrechts, D. (Diether), Weltens, C. (Caroline), Leunen, K., van Ongeval, C. (Chantal), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Fagerholm, R. (Rainer), Muranen, T.A. (Taru), Olsen, J.E. (Janet E.), Hallberg, B. (Boubou), Vachon, C. (Celine), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Broeks, A. (Annegien), Cornelissen, S. (Sten), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F. (Frederick), Le Marchand, L. (Loic), Hopper, J.L. (John), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Southey, M.C. (Melissa), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Ouweland, A.M.W. (Ans) van den, Marme, F. (Federick), Schneeweiss, A. (Andreas), Yang, R. (Rongxi), Burwinkel, B. (Barbara), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Brenner, H. (Hermann), Butterbach, K. (Katja), Holleczek, B. (B.), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Li, J. (Jingmei), Brand, J.S. (Judith S.), Humphreys, M.K. (Manjeet), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Ficarazzi, F. (Filomena), Beckmann, M.W. (Matthias), Hein, R. (Rebecca), Ekici, A.B. (Arif), Balleine, R. (Rosemary), Phillips, K.-A. (Kelly-Anne), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Durda, K. (Katarzyna), Hamann, U. (Ute), Kabisch, M. (Maria), Ulmer, H.U. (Hans), Rud̈iger, T. (Thomas), Margolin, S. (Sara), Kristensen, V. (Vessela), Nord, S. (Siljie), Evans, D.G. (Gareth), Abraham, J. (Jean), Earl, H. (Helena), Poole, C.J. (Christopher J.), Hiller, L. (Louise), Dunn, J.A. (J.), Bowden, S. (Sarah), Yang, R. (Rose), Campa, D. (Daniele), Diver, W.R. (Ryan), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Hankinson, S.E. (Susan), Hoover, R.N. (Robert), Hüsing, A. (Anika), Kaaks, R. (Rudolf), Machiela, M.J. (Mitchell J.), Willett, W.C. (Walter C.), Barrdahl, M. (Myrto), Canzian, F. (Federico), Chin, S.-F. (Suet-Feung), Caldas, C. (Carlos), Hunter, D. (David), Lindstrom, S. (Stephen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Chenevix-Trench, G. (Georgia), Mannermaa, A. (Arto), Andrulis, I.L. (Irene), Hall, P. (Per), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Bojesen, S.E. (Stig), Cox, A. (Angela), Fasching, P.A. (Peter), Pharoah, P.D.P. (Paul), and Schmidt, M.K. (Marjanka)
Abstract: Introduction: Previous studies have identified common germline variants nominally associated with breast cancer survival. These associations have not been widely replicated in further studies. The purpose of this study was to evaluate the association of previously reported SNPs with breast cancer-specific survival using data from a pooled analysis of eight breast cancer survival genome-wide association studies (GWAS) from the Breast Cancer Association Consortium. Methods: A literature review was conducted of all previously published associations between common germline variants and three survival outcomes: breast cancer-specific survival, overall survival and disease-free survival. All associations that reached the nominal significance level of P value <0.05 were included. Single nucleotide polymorphisms that had been previously reported as nominally associated with at least one survival outcome were evaluated in the pooled analysis of over 37,000 breast cancer cases for association with breast cancer-specific survival. Previous associations were evaluated using a one-sided test based on the reported direction of effect. Results: Fifty-six variants from 45 previous publications were evaluated in the meta-analysis. Fifty-four of these were evaluated in the full set of 37,954 breast cancer cases with 2,900 events and the two additional variants were evaluated in a reduced sample size of 30,000 samples in order to ensure independence from the previously published studies. Five variants reached nominal significance (P <0.05) in the pooled GWAS data compared to 2.8 expected under the null hypothesis. Seven additional variants were associated (P <0.05) with ER-positive disease. Conclusions: Although no variants reached genome-wide significance (P <5 x 10-8), these results suggest that there is some evidence of association between candidate common germline variants an
Published: 2015
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9. 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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10. 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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11. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

Author: Tatton-Brown, K. (Katrina), Murray, A. (Anna), Hanks, S. (Sandra), Douglas, J. (Jenny), Armstrong, R. (Ruth), Banka, S. (Siddharth), Bird, L.M. (Lynne), Clericuzio, C.L. (Carol), Cormier-Daire, V. (Valerie), Cushing, T. (Tom), Flinter, F. (Frances), Jacquemont, S. (Sébastien), Joss, S. (Shelagh), Kinning, E. (Esther), Lynch, S.A., Magee, A. (Alex), Mcconnell, V. (Vivienne), Medeira, A. (Ana), Ozono, K. (Keiichi), Patton, M. (Michael), Rankin, J. (Julia), Shears, D.J. (Deborah), Simon, M.E.H. (Marleen), Splitt, M. (M.), Strenger, V. (Volker), Stuurman, K.E. (Kyra), Taylor, C.J. (Clare), Titheradge, H. (Hannah), Maldergem, L. (Lionel) van, Temple, I.K., Cole, T.J. (Trevor), Seal, S. (Sheila), Rahman, N. (Nazneen), Tatton-Brown, K. (Katrina), Murray, A. (Anna), Hanks, S. (Sandra), Douglas, J. (Jenny), Armstrong, R. (Ruth), Banka, S. (Siddharth), Bird, L.M. (Lynne), Clericuzio, C.L. (Carol), Cormier-Daire, V. (Valerie), Cushing, T. (Tom), Flinter, F. (Frances), Jacquemont, S. (Sébastien), Joss, S. (Shelagh), Kinning, E. (Esther), Lynch, S.A., Magee, A. (Alex), Mcconnell, V. (Vivienne), Medeira, A. (Ana), Ozono, K. (Keiichi), Patton, M. (Michael), Rankin, J. (Julia), Shears, D.J. (Deborah), Simon, M.E.H. (Marleen), Splitt, M. (M.), Strenger, V. (Volker), Stuurman, K.E. (Kyra), Taylor, C.J. (Clare), Titheradge, H. (Hannah), Maldergem, L. (Lionel) van, Temple, I.K., Cole, T.J. (Trevor), Seal, S. (Sheila), and Rahman, N. (Nazneen)
Abstract: Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET domain (12/48). Truncating mutations were uncommon (4/48) and only identified in the final exon, after the SET domain. Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. However, tall stature is very common, reported in >90% of affected individuals. Intellectual disability is also common, present in ~80%, but is highly variable and frequently mild. Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry. Considerable phenotypic overlap between Sotos and Weaver syndromes is also evident. The identification of an EZH2 mutation can therefore provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes. As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve.
Published: 2013
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12. 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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13. Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

Author: Gaudet, M.M. (Mia), Kuchenbaecker, K.B. (Karoline), Vijai, J. (Joseph), Klein, R.J. (Robert), Kircchoff, T. (Tomas), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Dunning, A.M. (Alison), Lee, A. (Andrew), Dennis, J. (Joe), Healey, S. (Sue), Dicks, E. (Ed), Soucy, P. (Penny), Sinilnikova, O. (Olga), Pankratz, V.S. (Shane), Wang, X. (Xing), Eldridge, S. (Steve), Tessier, Y. (Yann), Vincent, D. (Daniel), Bacot, F. (Francois), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Peterlongo, P. (Paolo), Schmutzler, R.K. (Rita), Nathanson, K.L. (Katherine), Piedmonte, M. (Marion), Singer, C.F. (Christian), Thomassen, M. (Mads), Sokolowska, J. (Johanna), Bronner, M. (Myriam), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Blanco, I. (Ignacio), Greene, M.H. (Mark), Garber, J., Weitzel, J.N. (Jeffrey), Andrulis, I.L. (Irene), Goldgar, D. (David), D'Andrea, E. (Emma), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Rensburg, E.J. (Elizabeth) van, Arason, A. (Adalgeir), Rennert, G. (Gad), Ouweland, A.M.W. (Ans) van den, Hout, A.H. (Annemarie) van der, Kets, C.M. (Marleen), Aalfs, C.M. (Cora), Wijnen, J.T. (Juul), Ausems, M.G.E.M. (Margreet), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Jacobs, C. (Chris), Adlard, J.W. (Julian), Tischkowitz, M. (Marc), Porteous, M.E. (Mary), Damiola, F. (Francesca), Golmard, L. (Lisa), Barjhoux, L. (Laure), Longy, M. (Michel), Belotti, M. (Muriel), Ferrer, S.F., Mazoyer, S. (Sylvie), Spurdle, A.B. (Amanda), Manoukian, S. (Siranoush), Barile, M. (Monica), Genuardi, M. (Maurizio), Arnold, N. (Norbert), Meindl, A. (Alfons), Sutter, C. (Christian), Wapenschmidt, B. (Barbara), Domchek, S.M. (Susan), Pfeiler, G. (Georg), Friedman, E. (Eitan), Jensen, U.B., Robson, M. (Mark), Shah, S. (Sonia), Lázaro, C. (Conxi), Mai, P.L. (Phuong), Benítez, J. (Javier), Southey, M.C. (Melissa), Schmidt, M.K. (Marjanka), Fasching, P.A. (Peter), Peto, J. (Julian), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Michailidou, K. (Kyriaki), Sawyer, E.J. (Elinor), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Bojesen, S.E. (Stig), Milne, R.L. (Roger), Brenner, H. (Hermann), Lochmann, M. (Magdalena), Brauch, H. (Hiltrud), Ko, Y-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P., Bruening, T. (Thomas), Pesch, B. (Beate), Rabstein, S. (Sylvia), Spickenheuer, A. (Anne), Aittomäki, K. (Kristiina), Dörk, T. (Thilo), Margolin, S. (Sara), Mannermaa, A. (Arto), Lambrechts, D. (Diether), Chang-Claude, J. (Jenny), Radice, P. (Paolo), Giles, G.G. (Graham), Haiman, C.A. (Christopher), Winqvist, R. (Robert), Devillee, P. (Peter), García-Closas, M. (Montserrat), Schoof, N. (Nils), Hooning, M.J. (Maartje), Cox, A. (Angela), Pharoah, P.D.P. (Paul), Jakubowska, A. (Anna), Orr, N. (Nick), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Hall, A.S. (Alistair), Couch, F.J. (Fergus), Simard, J. (Jacques), Altshuler, D. (David), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Offit, K. (Kenneth), Rookus, M.A. (Matti), Leeuwen, F.E. (Flora) van, Verhoef, S., Lange, J.L. (J.) de, Collée, J.M. (Margriet), Seynaeve, C.M. (Caroline), Deurzen, C.H.M. (Carolien) van, Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Devilee, P. (Peter), Cronenburg, T.C.T.E.F. van, Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Os, T.A.M. (Theo) van, Gille, J.J. (Johan), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gómez García, E.B. (Encarna), Blok, M.J. (Marinus), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Vasen, H. (Hans), Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Gregory, H. (Helen), Morrison, P.J. (Patrick), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), Donaldson, A. (Alan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Alexandra), Rogers, M.T. (Mark), McCann, E. (Emma), Kennedy, M.J. (John), Barton, D.E. (David), Drummond, S. (Sarah), Brewer, C. (C.), 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), Izatt, L. (Louise), Langman, C. (Caroline), Brady, A.F. (Angela), Dorkins, H. (Huw), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Houghton, C. (Catherine), Lalloo, F. (Fiona), Taylor, J. (James), Side, L. (Lucy), Male, A. (Alison), Berlin, C. (Cheryl), Eason, J. (Jacqueline), Collier, R. (Rebecca), Douglas, F. (Fiona), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Eeles, R. (Rosalind), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), 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), Cook, J. (Jackie), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Hodgson, S.V. (Shirley), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Eccles, D. (Diana), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Léone, M. (Mélanie), Gauthier-Villars, M. (Marion), Buecher, B. (Bruno), Houdayer, C. (Claude), Moncoutier, V. (Virginie), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Lasset, C. (Christine), Bonadona, V. (Valérie), Handallou, S. (Sandrine), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Sobol, H. (Hagay), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Coupier, I. (Isabelle), Pujol, P. (Pascal), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Rouleau, E. (Etienne), Lidereau, R. (Rosette), Demange, L. (Liliane), Nogues, C. (Catherine), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), 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), Prieur, F. (Fabienne), Lebrun, M. (Marine), Kientz, C. (Caroline), Frenay, M. (Marc), Vénat-Bouvet, L. (Laurence), Delnatte, C.D. (Capucine), Mortemousque, I. (Isabelle), Lynch, H. (Henry), Snyder, C.L. (Carrie), Gaudet, M.M. (Mia), Kuchenbaecker, K.B. (Karoline), Vijai, J. (Joseph), Klein, R.J. (Robert), Kircchoff, T. (Tomas), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Dunning, A.M. (Alison), Lee, A. (Andrew), Dennis, J. (Joe), Healey, S. (Sue), Dicks, E. (Ed), Soucy, P. (Penny), Sinilnikova, O. (Olga), Pankratz, V.S. (Shane), Wang, X. (Xing), Eldridge, S. (Steve), Tessier, Y. (Yann), Vincent, D. (Daniel), Bacot, F. (Francois), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Peterlongo, P. (Paolo), Schmutzler, R.K. (Rita), Nathanson, K.L. (Katherine), Piedmonte, M. (Marion), Singer, C.F. (Christian), Thomassen, M. (Mads), Sokolowska, J. (Johanna), Bronner, M. (Myriam), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Blanco, I. (Ignacio), Greene, M.H. (Mark), Garber, J., Weitzel, J.N. (Jeffrey), Andrulis, I.L. (Irene), Goldgar, D. (David), D'Andrea, E. (Emma), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Rensburg, E.J. (Elizabeth) van, Arason, A. (Adalgeir), Rennert, G. (Gad), Ouweland, A.M.W. (Ans) van den, Hout, A.H. (Annemarie) van der, Kets, C.M. (Marleen), Aalfs, C.M. (Cora), Wijnen, J.T. (Juul), Ausems, M.G.E.M. (Margreet), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Jacobs, C. (Chris), Adlard, J.W. (Julian), Tischkowitz, M. (Marc), Porteous, M.E. (Mary), Damiola, F. (Francesca), Golmard, L. (Lisa), Barjhoux, L. (Laure), Longy, M. (Michel), Belotti, M. (Muriel), Ferrer, S.F., Mazoyer, S. (Sylvie), Spurdle, A.B. (Amanda), Manoukian, S. (Siranoush), Barile, M. (Monica), Genuardi, M. (Maurizio), Arnold, N. (Norbert), Meindl, A. (Alfons), Sutter, C. (Christian), Wapenschmidt, B. (Barbara), Domchek, S.M. (Susan), Pfeiler, G. (Georg), Friedman, E. (Eitan), Jensen, U.B., Robson, M. (Mark), Shah, S. (Sonia), Lázaro, C. (Conxi), Mai, P.L. (Phuong), Benítez, J. (Javier), Southey, M.C. (Melissa), Schmidt, M.K. (Marjanka), Fasching, P.A. (Peter), Peto, J. (Julian), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Michailidou, K. (Kyriaki), Sawyer, E.J. (Elinor), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Bojesen, S.E. (Stig), Milne, R.L. (Roger), Brenner, H. (Hermann), Lochmann, M. (Magdalena), Brauch, H. (Hiltrud), Ko, Y-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P., Bruening, T. (Thomas), Pesch, B. (Beate), Rabstein, S. (Sylvia), Spickenheuer, A. (Anne), Aittomäki, K. (Kristiina), Dörk, T. (Thilo), Margolin, S. (Sara), Mannermaa, A. (Arto), Lambrechts, D. (Diether), Chang-Claude, J. (Jenny), Radice, P. (Paolo), Giles, G.G. (Graham), Haiman, C.A. (Christopher), Winqvist, R. (Robert), Devillee, P. (Peter), García-Closas, M. (Montserrat), Schoof, N. (Nils), Hooning, M.J. (Maartje), Cox, A. (Angela), Pharoah, P.D.P. (Paul), Jakubowska, A. (Anna), Orr, N. (Nick), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Hall, A.S. (Alistair), Couch, F.J. (Fergus), Simard, J. (Jacques), Altshuler, D. (David), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Offit, K. (Kenneth), Rookus, M.A. (Matti), Leeuwen, F.E. (Flora) van, Verhoef, S., Lange, J.L. (J.) de, Collée, J.M. (Margriet), Seynaeve, C.M. (Caroline), Deurzen, C.H.M. (Carolien) van, Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Devilee, P. (Peter), Cronenburg, T.C.T.E.F. van, Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Os, T.A.M. (Theo) van, Gille, J.J. (Johan), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gómez García, E.B. (Encarna), Blok, M.J. (Marinus), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Vasen, H. (Hans), Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Gregory, H. (Helen), Morrison, P.J. (Patrick), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), Donaldson, A. (Alan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Alexandra), Rogers, M.T. (Mark), McCann, E. (Emma), Kennedy, M.J. (John), Barton, D.E. (David), Drummond, S. (Sarah), Brewer, C. (C.), 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), Izatt, L. (Louise), Langman, C. (Caroline), Brady, A.F. (Angela), Dorkins, H. (Huw), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Houghton, C. (Catherine), Lalloo, F. (Fiona), Taylor, J. (James), Side, L. (Lucy), Male, A. (Alison), Berlin, C. (Cheryl), Eason, J. (Jacqueline), Collier, R. (Rebecca), Douglas, F. (Fiona), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Eeles, R. (Rosalind), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), 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), Cook, J. (Jackie), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Hodgson, S.V. (Shirley), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Eccles, D. (Diana), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Léone, M. (Mélanie), Gauthier-Villars, M. (Marion), Buecher, B. (Bruno), Houdayer, C. (Claude), Moncoutier, V. (Virginie), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Lasset, C. (Christine), Bonadona, V. (Valérie), Handallou, S. (Sandrine), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Sobol, H. (Hagay), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Coupier, I. (Isabelle), Pujol, P. (Pascal), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Rouleau, E. (Etienne), Lidereau, R. (Rosette), Demange, L. (Liliane), Nogues, C. (Catherine), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), 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), Prieur, F. (Fabienne), Lebrun, M. (Marine), Kientz, C. (Caroline), Frenay, M. (Marc), Vénat-Bouvet, L. (Laurence), Delnatte, C.D. (Capucine), Mortemousque, I. (Isabelle), Lynch, H. (Henry), and Snyder, C.L. (Carrie)
Published: 2013
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14. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

Author: Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), 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), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), 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), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), and Dunning, A.M. (Alison)
Abstract: The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP, tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from forty-four studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European descent. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Case-only analyses were used to compare SNP effects in Estrogen Receptor positive (ER+) versus negative (ER-) tumours. Models including both SNPs were fitted to investigate whether the SNP effec
Published: 2012
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15. Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2

Author: Kircchoff, T. (Tomas), Offit, K. (Kenneth), Gaudet, M.M. (Mia), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Humphreys, M.K. (Manjeet), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Burwinkel, B. (Barbara), Meindl, A. (Alfons), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Brüning, T. (Thomas), Pesch, B. (Beate), Harth, V. (Volker), Rabstein, S. (Sylvia), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Veer, L.J. (Laura) van 't, Braaf, L.M. (Linde), Johnson, N. (Nichola), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Peto, J. (Julian), Turnbull, C. (Clare), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hsiung, C.-N. (Chia-Ni), Shen, C-Y. (Chen-Yang), Southey, M.C. (Melissa), Hopper, J.L. (John), Hammet, F. (Fleur), Dorpe, T. (Thijs) van, Dieudonné, A.-S. (Anne-Sophie), Hatse, S. (Sigrid), Lambrechts, D. (Diether), Andrulis, I.L. (Irene), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, J.I. (Juri), Prokofieva, D. (Daria), Bermisheva, M. (Marina), Khusnutdinova, E.K. (Elza), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Devilee, P. (Peter), Margolin, S. (Sara), Lindblom, A. (Annika), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Severi, G. (Gianluca), Baglietto, L. (Laura), Giles, G.G. (Graham), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Holland, H. (Helene), Healey, S. (Sue), Wang-Gohrke, S. (Shan), Chang-Claude, J. (Jenny), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kauppinen, J. (Jaana), Kataja, V. (Vesa), Agnarsson, B.A. (Bjarni), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Fredericksen, Z. (Zachary), Lindor, N.M. (Noralane), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Loman, N. (Niklas), Karlsson, P. (Per), Askmalm, M.S. (Marie), Melin, B. (Beatrice), Wachenfeldt, A. (Anna) von, Hogervorst, F.B.L. (Frans), Verheus, M. (Martijn), Rookus, M.A. (Matti), Seynaeve, C.M. (Caroline), Oldenburg, R.A. (Rogier), Ligtenberg, M.J. (Marjolijn), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, H.J.P. (Hans), Wijnen, J.T. (Juul), Gómez García, E.B. (Encarna), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Luccarini, C. (Craig), Pichert, G. (Gabriella), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R. (Kai-Ren), Cook, J. (Jackie), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Gold, B. (Bert), Wang, X. (Xianshu), Chu, C. (Carol), Kircchoff, T. (Tomas), Offit, K. (Kenneth), Gaudet, M.M. (Mia), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Humphreys, M.K. (Manjeet), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Burwinkel, B. (Barbara), Meindl, A. (Alfons), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Brüning, T. (Thomas), Pesch, B. (Beate), Harth, V. (Volker), Rabstein, S. (Sylvia), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Veer, L.J. (Laura) van 't, Braaf, L.M. (Linde), Johnson, N. (Nichola), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Peto, J. (Julian), Turnbull, C. (Clare), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hsiung, C.-N. (Chia-Ni), Shen, C-Y. (Chen-Yang), Southey, M.C. (Melissa), Hopper, J.L. (John), Hammet, F. (Fleur), Dorpe, T. (Thijs) van, Dieudonné, A.-S. (Anne-Sophie), Hatse, S. (Sigrid), Lambrechts, D. (Diether), Andrulis, I.L. (Irene), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, J.I. (Juri), Prokofieva, D. (Daria), Bermisheva, M. (Marina), Khusnutdinova, E.K. (Elza), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Devilee, P. (Peter), Margolin, S. (Sara), Lindblom, A. (Annika), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Severi, G. (Gianluca), Baglietto, L. (Laura), Giles, G.G. (Graham), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Holland, H. (Helene), Healey, S. (Sue), Wang-Gohrke, S. (Shan), Chang-Claude, J. (Jenny), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kauppinen, J. (Jaana), Kataja, V. (Vesa), Agnarsson, B.A. (Bjarni), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Fredericksen, Z. (Zachary), Lindor, N.M. (Noralane), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Loman, N. (Niklas), Karlsson, P. (Per), Askmalm, M.S. (Marie), Melin, B. (Beatrice), Wachenfeldt, A. (Anna) von, Hogervorst, F.B.L. (Frans), Verheus, M. (Martijn), Rookus, M.A. (Matti), Seynaeve, C.M. (Caroline), Oldenburg, R.A. (Rogier), Ligtenberg, M.J. (Marjolijn), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, H.J.P. (Hans), Wijnen, J.T. (Juul), Gómez García, E.B. (Encarna), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Luccarini, C. (Craig), Pichert, G. (Gabriella), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R. (Kai-Ren), Cook, J. (Jackie), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Gold, B. (Bert), Wang, X. (Xianshu), and Chu, C. (Carol)
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I2 = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012
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16. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Author: Antoniou, A.C. (Antonis), Kartsonaki, C. (Christiana), Sinilnikova, O. (Olga), Soucy, P. (Penny), McGuffog, L. (Lesley), Healey, S. (Sue), Lee, A. (Andrew), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Cattaneo, E. (Elisa), Barile, M. (Monica), Pensotti, V. (Valeria), Pasini, B. (Barbara), Dolcetti, R. (Riccardo), Giannini, G. (Giuseppe), Putignano, A.L., Varesco, L. (Liliana), Radice, P. (Paolo), Mai, P.L. (Phuong), Greene, M.H. (Mark), Andrulis, I.L. (Irene), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Thomassen, M. (Mads), Gerdes, A-M. (Anne-Marie), Kruse, T.A. (Torben), Jensen, U.B., Cruger, D. (Dorthe), Caligo, M.A. (Maria), Laitman, Y. (Yael), Milgrom, R. (Roni), Kaufman, B. (Bella), Paluch-Shimon, S. (Shani), Friedman, E. (Eitan), Loman, N. (Niklas), Harbst, K. (Katja), Lindblom, A. (Annika), Melin, B. (Beatrice), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Huzarski, T. (Tomasz), Byrski, T. (Tomasz), Cybulski, C. (Cezary), Górski, B. (Bohdan), Osorio, A. (Ana), Cajal, T.R., Fostira, F. (Florentia), Andres, R. (Raquel), Benitez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Nelen, M.R. (Marcel), Luijt, R.B. (Rob) van der, Os, T.A.M. (Theo) van, Asperen, C.J. (Christi) van, Devilee, P. (Peter), Meijers-Heijboer, H. (Hanne), Garcia, E.B.G., Peock, S. (Susan), Cook, M. (Margaret), Frost, D., Platte, R. (Radka), Leyland, J. (Jean), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R., Douglas, F. (Fiona), Paterson, J. (Joan), Kennedy, M.J. (John), Miedzybrodzka, Z. (Zosia), Godwin, A.K. (Andrew), Stoppa-Lyonnet, D. (Dominique), Buecher, B. (Bruno), Belotti, M. (Muriel), Tirapo, C. (Carole), Mazoyer, S. (Sylvie), Barjhoux, L. (Laure), Lasset, C. (Christine), Leroux, D. (Dominique), Faivre, L. (Laurence), Bronner, M. (Myriam), Prieur, F. (Fabienne), Nogues, C. (Catherine), Rouleau, E. (Etienne), Pujol, P. (Pascal), Coupier, I. (Isabelle), Frenay, M. (Marc), Hopper, J. (John), Daly, M.J. (Mark), Terry, M-B. (Mary-beth), John, E.M. (Esther), Buys, S.S. (Saundra), Yassin, Y. (Yosuf), Miron, A. (Alexander), Goldgar, D. (David), Singer, C.F. (Christian), Tea, M.-K., Pfeiler, G. (Georg), Dressler, C. (Catherina), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Ejlertsen, B. (Bent), Barkardottir, R.B. (Rosa), Kircchoff, T. (Tomas), Offit, K. (Kenneth), Piedmonte, M. (Marion), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Boggess, J.F. (John), Blank, S.V. (Stephanie), Basil, J. (Jack), Azodi, M. (Masoud), Toland, A.E. (Amanda), Montagna, M. (Marco), Tognazzo, S. (Silvia), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Pharoah, P.D.P. (Paul), Sucheston, L. (Lara), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Olah, E. (Edith), Bozsik, A. (Aniko), Teo, S.-H. (Soo-Hwang), Seldon, J.L. (Joyce), Beattie, M.S. (Mary), Rensburg, E.J. (Elizabeth) van, Sluiter, M.D. (Michelle), Diez, O. (Orland), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Engel, C. (Christoph), Meindl, A. (Alfons), Ruehl, I. (Ina), Varon-Mateeva, R. (Raymonda), Kast, K. (Karin), Deissler, H. (Helmut), Niederacher, D. (Dieter), Arnold, N. (Norbert), Gadzicki, D. (Dorothea), Schönbuchner, I. (Ines), Caldes, T. (Trinidad), Hoya, M. (Miguel) de La, Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Dumont, M. (Martine), Chiquette, J. (Jocelyne), Tischkowitz, M. (Marc), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Spurdle, A.B. (Amanda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Fredericksen, Z. (Zachary), Wang, X. (Xing), Pankratz, V.S. (Shane), Couch, F.J. (Fergus), Simard, J. (Jacques), Easton, D.F. (Douglas), Karlsson, P. (Per), Nordling, M. (Margareta), Bergman, A. (Annika), Einbeigi, Z. (Zakaria), Stenmark-Askmalm, M. (M.), Liedgren, S. (Sigrun), Borg, Å. (Åke), Olsson, H. (Hans), Kristoffersson, U. (Ulf), Jernström, H. (H.), Henriksson, K. (Karin), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Barbany-Bustinza, G. (Gisela), Rantala, J. (Johanna), Grönberg, H. (Henrik), Stattin, E.-L., Emanuelsson, M. (Monica), Brandell, R.R., Dahl, N. (Niklas), Verhoef, S., Verheus, M. (Martijn), Veer, L.J. (Laura) van 't, Leeuwen, F.E. (Flora) van, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Seynaeve, C.M. (Caroline), Wijnen, J.T. (Juul), Vreeswijk, M.P. (Maaike), Tollenaar, R.A.E.M. (Rob), Ligtenberg, M.J. (Marjolijn), Hoogerbrugge, N. (Nicoline), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, J.J.P. (Jan), Waisfisz, Q. (Quinten), Gómez García, E.B. (Encarna), Roozendaal, C.E. (Cees) van, Blok, M.J. (Marinus), Caanen, B., Oosterwijk, J.C., Hout, A.H. (Annemarie) van der, Mourits, M.J., Vasen, H.F. (Hans), Gregory, H. (Helen), Morrison, P.J. (Patrick), Jeffers, L. (Lisa), Cole, T.J. (Trevor), McKeown, C. (Carole), Hoffman, J. (Jonathan), Donaldson, A. (Alan), Downing, S. (Sarah), Taylor, A. (Amy), Murray, A. (Alexandra), Rogers, M.T. (Mark), McCann, E. (Emma), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Hill, K. (Kathryn), 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), Whaite, A. (Anna), Dorkins, H. (Huw), Barwell, J. (Julian), Chu, C. (Chengbin), Miller, J. (Julie), Ellis, I.O. (Ian), Houghton, C. (Catherine), Side, L. (Lucy), Male, A. (Alison), Berlin, C. (Cheryl), Eason, J. (Jacqueline), 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), Bancroft, E.K. (Elizabeth), D'Mello, L. (Lucia), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Mitra, A. (Anita), Robertson, L. (Lisa), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Ehrencrona, H. (Hans), Hodgson, S.V. (Shirley), Barton, D.E. (David), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lucassen, A. (Anneke), Crawford, G. (Gillian), McBride, D. (Donna), Smalley, S. (Sarah), Adlard, J.W. (Julian), Arver, B. (Brita Wasteson), Antoniou, A.C. (Antonis), Kartsonaki, C. (Christiana), Sinilnikova, O. (Olga), Soucy, P. (Penny), McGuffog, L. (Lesley), Healey, S. (Sue), Lee, A. (Andrew), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Cattaneo, E. (Elisa), Barile, M. (Monica), Pensotti, V. (Valeria), Pasini, B. (Barbara), Dolcetti, R. (Riccardo), Giannini, G. (Giuseppe), Putignano, A.L., Varesco, L. (Liliana), Radice, P. (Paolo), Mai, P.L. (Phuong), Greene, M.H. (Mark), Andrulis, I.L. (Irene), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Thomassen, M. (Mads), Gerdes, A-M. (Anne-Marie), Kruse, T.A. (Torben), Jensen, U.B., Cruger, D. (Dorthe), Caligo, M.A. (Maria), Laitman, Y. (Yael), Milgrom, R. (Roni), Kaufman, B. (Bella), Paluch-Shimon, S. (Shani), Friedman, E. (Eitan), Loman, N. (Niklas), Harbst, K. (Katja), Lindblom, A. (Annika), Melin, B. (Beatrice), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Rebbeck, R. (Timothy), Jakubowska, A. (Anna), Lubinski, J. (Jan), Gronwald, J. (Jacek), Huzarski, T. (Tomasz), Byrski, T. (Tomasz), Cybulski, C. (Cezary), Górski, B. (Bohdan), Osorio, A. (Ana), Cajal, T.R., Fostira, F. (Florentia), Andres, R. (Raquel), Benitez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Nelen, M.R. (Marcel), Luijt, R.B. (Rob) van der, Os, T.A.M. (Theo) van, Asperen, C.J. (Christi) van, Devilee, P. (Peter), Meijers-Heijboer, H. (Hanne), Garcia, E.B.G., Peock, S. (Susan), Cook, M. (Margaret), Frost, D., Platte, R. (Radka), Leyland, J. (Jean), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R., Douglas, F. (Fiona), Paterson, J. (Joan), Kennedy, M.J. (John), Miedzybrodzka, Z. (Zosia), Godwin, A.K. (Andrew), Stoppa-Lyonnet, D. (Dominique), Buecher, B. (Bruno), Belotti, M. (Muriel), Tirapo, C. (Carole), Mazoyer, S. (Sylvie), Barjhoux, L. (Laure), Lasset, C. (Christine), Leroux, D. (Dominique), Faivre, L. (Laurence), Bronner, M. (Myriam), Prieur, F. (Fabienne), Nogues, C. (Catherine), Rouleau, E. (Etienne), Pujol, P. (Pascal), Coupier, I. (Isabelle), Frenay, M. (Marc), Hopper, J. (John), Daly, M.J. (Mark), Terry, M-B. (Mary-beth), John, E.M. (Esther), Buys, S.S. (Saundra), Yassin, Y. (Yosuf), Miron, A. (Alexander), Goldgar, D. (David), Singer, C.F. (Christian), Tea, M.-K., Pfeiler, G. (Georg), Dressler, C. (Catherina), Hansen, T.V.O. (Thomas), Jønson, L. (Lars), Ejlertsen, B. (Bent), Barkardottir, R.B. (Rosa), Kircchoff, T. (Tomas), Offit, K. (Kenneth), Piedmonte, M. (Marion), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Boggess, J.F. (John), Blank, S.V. (Stephanie), Basil, J. (Jack), Azodi, M. (Masoud), Toland, A.E. (Amanda), Montagna, M. (Marco), Tognazzo, S. (Silvia), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Pharoah, P.D.P. (Paul), Sucheston, L. (Lara), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Olah, E. (Edith), Bozsik, A. (Aniko), Teo, S.-H. (Soo-Hwang), Seldon, J.L. (Joyce), Beattie, M.S. (Mary), Rensburg, E.J. (Elizabeth) van, Sluiter, M.D. (Michelle), Diez, O. (Orland), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Engel, C. (Christoph), Meindl, A. (Alfons), Ruehl, I. (Ina), Varon-Mateeva, R. (Raymonda), Kast, K. (Karin), Deissler, H. (Helmut), Niederacher, D. (Dieter), Arnold, N. (Norbert), Gadzicki, D. (Dorothea), Schönbuchner, I. (Ines), Caldes, T. (Trinidad), Hoya, M. (Miguel) de La, Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Dumont, M. (Martine), Chiquette, J. (Jocelyne), Tischkowitz, M. (Marc), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Spurdle, A.B. (Amanda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Fredericksen, Z. (Zachary), Wang, X. (Xing), Pankratz, V.S. (Shane), Couch, F.J. (Fergus), Simard, J. (Jacques), Easton, D.F. (Douglas), Karlsson, P. (Per), Nordling, M. (Margareta), Bergman, A. (Annika), Einbeigi, Z. (Zakaria), Stenmark-Askmalm, M. (M.), Liedgren, S. (Sigrun), Borg, Å. (Åke), Olsson, H. (Hans), Kristoffersson, U. (Ulf), Jernström, H. (H.), Henriksson, K. (Karin), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Barbany-Bustinza, G. (Gisela), Rantala, J. (Johanna), Grönberg, H. (Henrik), Stattin, E.-L., Emanuelsson, M. (Monica), Brandell, R.R., Dahl, N. (Niklas), Verhoef, S., Verheus, M. (Martijn), Veer, L.J. (Laura) van 't, Leeuwen, F.E. (Flora) van, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Seynaeve, C.M. (Caroline), Wijnen, J.T. (Juul), Vreeswijk, M.P. (Maaike), Tollenaar, R.A.E.M. (Rob), Ligtenberg, M.J. (Marjolijn), Hoogerbrugge, N. (Nicoline), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, J.J.P. (Jan), Waisfisz, Q. (Quinten), Gómez García, E.B. (Encarna), Roozendaal, C.E. (Cees) van, Blok, M.J. (Marinus), Caanen, B., Oosterwijk, J.C., Hout, A.H. (Annemarie) van der, Mourits, M.J., Vasen, H.F. (Hans), Gregory, H. (Helen), Morrison, P.J. (Patrick), Jeffers, L. (Lisa), Cole, T.J. (Trevor), McKeown, C. (Carole), Hoffman, J. (Jonathan), Donaldson, A. (Alan), Downing, S. (Sarah), Taylor, A. (Amy), Murray, A. (Alexandra), Rogers, M.T. (Mark), McCann, E. (Emma), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Hill, K. (Kathryn), 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), Whaite, A. (Anna), Dorkins, H. (Huw), Barwell, J. (Julian), Chu, C. (Chengbin), Miller, J. (Julie), Ellis, I.O. (Ian), Houghton, C. (Catherine), Side, L. (Lucy), Male, A. (Alison), Berlin, C. (Cheryl), Eason, J. (Jacqueline), 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), Bancroft, E.K. (Elizabeth), D'Mello, L. (Lucia), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Mitra, A. (Anita), Robertson, L. (Lisa), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Ehrencrona, H. (Hans), Hodgson, S.V. (Shirley), Barton, D.E. (David), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lucassen, A. (Anneke), Crawford, G. (Gillian), McBride, D. (Donna), Smalley, S. (Sarah), Adlard, J.W. (Julian), and Arver, B. (Brita Wasteson)
Abstract: Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r2= 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 × 10-9for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 × 10-8for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
Published: 2011
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17. Confirmation of 5p12 as a susceptibility locus for progesterone-receptor- positive, lower grade breast cancer

Author: Milne, R.L. (Roger), Goode, E.L. (Ellen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Severi, G. (Gianluca), Hein, R. (Rebecca), Fredericksen, Z. (Zachary), Malats, N. (Núria), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Cox, A. (Angela), Brock, I.W. (Ian), Elliot, K.S. (Katherine), Cross, S.S. (Simon), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Rahman, N. (Nazneen), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Lanng, C. (Charlotte), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børrensen-Dale, A.-L. (Anne-Lise), Hopper, J.L. (John), Dite, G.S. (Gillian), Apicella, C. (Carmel), Southey, M.C. (Melissa), Lambrechts, D. (Diether), Yesilyurt, B.T. (Betül), Floris, O.A.M., Leunen, K., Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Giles, G.G. (Graham), Baglietto, L. (Laura), John, E.M. (Esther), Miron, A. (Alexander), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Figueroa, J.D. (Jonine), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Zalutsky, I.V. (Iosif), Rogov, Y.I. (Yuri), Fasching, P.A. (Peter), Bayer, T. (T.), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Thomas, G. (Gilles), Hoover, R.N. (Robert), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Tollenaar, R.A.E.M. (Rob), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Hunter, D. (David), Hankinson, S.E. (Susan), Kraft, P. (Peter), Lindstrom, S. (Stephen), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Hamann, U. (Ute), Harth, V. (Volker), Justenhoven, C. (Christina), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofieva, D. (Darya), Farahtdinova, A. (Albina), Olson, J.E. (Janet), Wang, X. (Xing), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas), Milne, R.L. (Roger), Goode, E.L. (Ellen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Severi, G. (Gianluca), Hein, R. (Rebecca), Fredericksen, Z. (Zachary), Malats, N. (Núria), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Cox, A. (Angela), Brock, I.W. (Ian), Elliot, K.S. (Katherine), Cross, S.S. (Simon), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Rahman, N. (Nazneen), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Lanng, C. (Charlotte), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børrensen-Dale, A.-L. (Anne-Lise), Hopper, J.L. (John), Dite, G.S. (Gillian), Apicella, C. (Carmel), Southey, M.C. (Melissa), Lambrechts, D. (Diether), Yesilyurt, B.T. (Betül), Floris, O.A.M., Leunen, K., Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Giles, G.G. (Graham), Baglietto, L. (Laura), John, E.M. (Esther), Miron, A. (Alexander), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Figueroa, J.D. (Jonine), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Zalutsky, I.V. (Iosif), Rogov, Y.I. (Yuri), Fasching, P.A. (Peter), Bayer, T. (T.), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Thomas, G. (Gilles), Hoover, R.N. (Robert), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Tollenaar, R.A.E.M. (Rob), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Hunter, D. (David), Hankinson, S.E. (Susan), Kraft, P. (Peter), Lindstrom, S. (Stephen), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Hamann, U. (Ute), Harth, V. (Volker), Justenhoven, C. (Christina), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofieva, D. (Darya), Farahtdinova, A. (Albina), Olson, J.E. (Janet), Wang, X. (Xing), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Chenevix-Trench, G. (Georgia), and Easton, D.F. (Douglas)
Abstract: Background: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, particularly estrogen receptor (ER)-positive disease. We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium. Methods: Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS), and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness and histopathology were assessed using logistic regression. Results: For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08-1.14, P = 7 × 10 -18) for invasive breast cancer and 1.10 (95% CI = 1.01-1.21, P = 0.03) for DCIS. For Asian women, the estimated OR for invasive disease was similar (OR = 1.07, 95%CI = 0.99-1.15, P = 0.09). Further analyses suggested that the association in white Europeans was largely limited to progesterone receptor (PR)- positive disease (per-allele OR = 1.16, 95% CI = 1.12-1.20, P = 1 × 10 -18 vs. OR = 1.03, 95% CI = 0.99-1.07, P
Published: 2011
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18. Exploring the link between MORF4L1 and risk of breast cancer

Author: Martrat, G. (Griselda), Maxwell, C.A. (Christopher), Tominaga, E. (Emiko), Porta-de-la-Riva, M. (Montserrat), Bonifaci, N. (Núria), Gómez-Baldó, L. (Laia), Bogliolo, M. (Massimo), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Brunet, J. (Joan), Aguilar, H. (Helena), Fernández-Rodríguez, J. (Juana), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Kühl, J. (Julia), Neveling, K. (Kornelia), Schindler, D. (Detlev), Ramírez, M.J. (María), Castellà, M. (María), Hernández, G. (Gonzalo), Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Platte, R. (Radka), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Chu, C. (Chengbin), Davidson, R. (Rosemarie), Ong, K., Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Brewer, C. (Carole), Morrison, P.J. (Patrick), Porteous, M.E. (Mary), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (Daniela), Roversi, G. (Gaia), Barile, M. (Monica), Viel, A. (Alessandra), Pasini, B. (Barbara), Ottini, L. (Laura), Putignano, A.L., Savarese, A. (Antonella), Bernard, L. (Loris), Radice, P. (Paolo), Healey, S. (Sue), Spurdle, A.B. (Amanda), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Rookus, M.A. (Matti), Verhoef, S., Tilanus-Linthorst, M.M.A. (Madeleine), Vreeswijk, M.P. (Maaike), Bodmer, D. (Danielle), Ausems, M.G.E.M. (Margreet), Os, T.A.M. (Theo) van, Blok, M.J. (Marinus), Meijers-Heijboer, E.J. (Hanne), Hogervorst, F.B.L. (Frans), Goldgar, D. (David), Buys, S.S. (Saundra), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Daly, M.J. (Mark), Harbst, K. (Katja), Borg, Å. (Åke), Rantala, J. (Johanna), Barbany-Bustinza, G. (Gisela), Ehrencrona, H. (Hans), Stenmark-Askmalm, M. (M.), Kaufman, B. (Bella), Laitman, Y. (Yael), Milgrom, R. (Roni), Friedman, E. (Eitan), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Johannson, O.T. (Oskar), Couch, F.J. (Fergus), Wang, X. (Xing), Fredericksen, Z. (Zachary), Cuadras, D. (Daniel), Moreno, V. (Víctor), Pientka, F.K. (Friederike), Depping, R. (Reinhard), Caldes, T. (Trinidad), Osorio, A. (Ana), Benítez, J. (Javier), Bueren, J. (Juan), Heikinen, T. (Tuomas), Nevanlinna, H. (Heli), Hamann, U. (Ute), Torres, D. (Diana), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Imyanitov, E.N. (Evgeny), Janavicius, R. (Ramunas), Sinilnikova, O. (Olga), Stoppa-Lyonnet, D. (Dominique), Mazoyer, S. (Sylvie), Verny-Pierre, C. (Carole), Castera, L. (Laurent), Pauw, A. (Antoine) de, Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Peyrat, J.-P., Vennin, P. (Philippe), Ferrer, S.F., Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), McGuffog, L. (Lesley), Chenevix-Trench, G. (Georgia), Pereira-Smith, O.M. (Olivia), Antoniou, A.C. (Antonis), Cerón, J. (Julián), Surrallés, J. (Jordi), Pujana, M.A. (Miguel), Asperen, C.J. (Christi) van, Martrat, G. (Griselda), Maxwell, C.A. (Christopher), Tominaga, E. (Emiko), Porta-de-la-Riva, M. (Montserrat), Bonifaci, N. (Núria), Gómez-Baldó, L. (Laia), Bogliolo, M. (Massimo), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Brunet, J. (Joan), Aguilar, H. (Helena), Fernández-Rodríguez, J. (Juana), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Kühl, J. (Julia), Neveling, K. (Kornelia), Schindler, D. (Detlev), Ramírez, M.J. (María), Castellà, M. (María), Hernández, G. (Gonzalo), Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Platte, R. (Radka), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Chu, C. (Chengbin), Davidson, R. (Rosemarie), Ong, K., Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Brewer, C. (Carole), Morrison, P.J. (Patrick), Porteous, M.E. (Mary), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (Daniela), Roversi, G. (Gaia), Barile, M. (Monica), Viel, A. (Alessandra), Pasini, B. (Barbara), Ottini, L. (Laura), Putignano, A.L., Savarese, A. (Antonella), Bernard, L. (Loris), Radice, P. (Paolo), Healey, S. (Sue), Spurdle, A.B. (Amanda), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Rookus, M.A. (Matti), Verhoef, S., Tilanus-Linthorst, M.M.A. (Madeleine), Vreeswijk, M.P. (Maaike), Bodmer, D. (Danielle), Ausems, M.G.E.M. (Margreet), Os, T.A.M. (Theo) van, Blok, M.J. (Marinus), Meijers-Heijboer, E.J. (Hanne), Hogervorst, F.B.L. (Frans), Goldgar, D. (David), Buys, S.S. (Saundra), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Daly, M.J. (Mark), Harbst, K. (Katja), Borg, Å. (Åke), Rantala, J. (Johanna), Barbany-Bustinza, G. (Gisela), Ehrencrona, H. (Hans), Stenmark-Askmalm, M. (M.), Kaufman, B. (Bella), Laitman, Y. (Yael), Milgrom, R. (Roni), Friedman, E. (Eitan), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Johannson, O.T. (Oskar), Couch, F.J. (Fergus), Wang, X. (Xing), Fredericksen, Z. (Zachary), Cuadras, D. (Daniel), Moreno, V. (Víctor), Pientka, F.K. (Friederike), Depping, R. (Reinhard), Caldes, T. (Trinidad), Osorio, A. (Ana), Benítez, J. (Javier), Bueren, J. (Juan), Heikinen, T. (Tuomas), Nevanlinna, H. (Heli), Hamann, U. (Ute), Torres, D. (Diana), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Imyanitov, E.N. (Evgeny), Janavicius, R. (Ramunas), Sinilnikova, O. (Olga), Stoppa-Lyonnet, D. (Dominique), Mazoyer, S. (Sylvie), Verny-Pierre, C. (Carole), Castera, L. (Laurent), Pauw, A. (Antoine) de, Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Peyrat, J.-P., Vennin, P. (Philippe), Ferrer, S.F., Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), McGuffog, L. (Lesley), Chenevix-Trench, G. (Georgia), Pereira-Smith, O.M. (Olivia), Antoniou, A.C. (Antonis), Cerón, J. (Julián), Surrallés, J. (Jordi), Pujana, M.A. (Miguel), and Asperen, C.J. (Christi) van
Abstract: Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens.Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were perform
Published: 2011
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19. Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility

Author: Schutte, A.E.M. (Mieke), Meijers-Heijboer, E.J. (Hanne), Easton, D.F. (Douglas), Wasielewski, M. (Marijke), Evans, D.G. (Gareth), Eccles, D. (Diana), Weber, B.L. (Barbara), Rahman, N. (Nazneen), Meijers, C. (Carel), Lohman, F., Nathanson, K.L. (Katherine), Futreal, P.A. (Andrew), Stratton, M.R. (Michael), Seal, S. (Sheila), Barfoot, R. (Rita), Ouweland, A.M.W. (Ans) van den, Klijn, J.G.M. (Jan), Schutte, A.E.M. (Mieke), Meijers-Heijboer, E.J. (Hanne), Easton, D.F. (Douglas), Wasielewski, M. (Marijke), Evans, D.G. (Gareth), Eccles, D. (Diana), Weber, B.L. (Barbara), Rahman, N. (Nazneen), Meijers, C. (Carel), Lohman, F., Nathanson, K.L. (Katherine), Futreal, P.A. (Andrew), Stratton, M.R. (Michael), Seal, S. (Sheila), Barfoot, R. (Rita), Ouweland, A.M.W. (Ans) van den, and Klijn, J.G.M. (Jan)
Abstract: We recently reported that a sequence variant in the cell-cycle-checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2 variants confer susceptibility to breast cancer, we screened the full CHEK2 coding sequence in BRCA1/2-negative breast cancer cases from 89 pedigrees with three or more cases of breast cancer. We identified one novel germline variant, R117G, in two separate families. To evaluate the possible association of R117G and two germline variants repor
Published: 2003

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19 results on '"Rahman, N. (Nazneen)"'

1. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

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

3. Body mass index and breast cancer survival

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

5. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

6. Prediction of breast cancer risk based on profiling with common genetic variants

7. Identification of novel genetic markers of breast cancer survival

8. Common germline polymorphisms associated with breast cancer-specific survival

9. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

10. MicroRNA related polymorphisms and breast cancer risk

11. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

12. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

13. Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

14. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

15. Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2

16. Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

17. Confirmation of 5p12 as a susceptibility locus for progesterone-receptor- positive, lower grade breast cancer

18. Exploring the link between MORF4L1 and risk of breast cancer

19. Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility

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19 results on '"Rahman, N. (Nazneen)"'

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