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

Author

Park, J. (JooYong), Choi, J.-Y. (Ji-Yeob), Choi, J. (Jaesung), Chung, S. (Seokang), Song, N. (Nan), Park, S. K. (Sue K.), Han, W. (Wonshik), Noh, D.-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Lee, J. W. (Jong Won), Kim, M. K. (Mi Kyung), Jee, S. H. (Sun Ha), Wen, W. (Wanqing), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Shah, M. (Mitul), Conroy, D. M. (Don M.), Harrington, P. A. (Patricia A.), Mayes, R. (Rebecca), Czene, K. (Kamila), Hall, P. (Per), Teras, L. R. (Lauren R.), Patel, A. V. (Alpa V.), Couch, F. J. (Fergus J.), Olson, J. E. (Janet E.), Sawyer, E. J. (Elinor J.), Roylance, R. (Rebecca), Bojesen, S. E. (Stig E.), Flyger, H. (Henrik), Lambrechts, D. (Diether), Baten, A. (Adinda), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Guenel, P. (Pascal), Truong, T. (Therese), Keeman, R. (Renske), Schmidt, M. K. (Marjanka K.), Wu, A. H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Cox, A. (Angela), Cross, S. S. (Simon S.), Andrulis, I. L. (Irene L.), Hopper, J. L. (John L.), Southey, M. C. (Melissa C.), Wu, P.-E. (Pei-Ei), Shen, C.-Y. (Chen-Yang), Fasching, P. A. (Peter A.), Ekici, A. B. (Arif B.), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Brenner, H. (Hermann), Arndt, V. (Volker), Jones, M. E. (Michael E.), Swerdlow, A. J. (Anthony J.), Hoppe, R. (Reiner), Ko, Y.-D. (Yon-Dschun), Hartman, M. (Mikael), Li, J. (Jingmei), Mannermaa, A. (Arto), Hartikainen, J. M. (Jaana M.), Benitez, J. (Javier), Gonzalez-Neira, A. (Anna), Haiman, C. A. (Christopher A.), Doerk, T. (Thilo), Bogdanova, N. V. (Natalia V.), Teo, S. H. (Soo Hwang), Mohd Taib, N. A. (Nur Aishah), Fletcher, O. (Olivia), Johnson, N. (Nichola), Grip, M. (Mervi), Winqvist, R. (Robert), Blomqvist, C. (Carl), Nevanlinna, H. (Heli), Lindblom, A. (Annika), Wendt, C. (Camilla), Kristensen, V. N. (Vessela N.), Tollenaar, R. A. (Rob A. E. M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Radice, P. (Paolo), Bonanni, B. (Bernardo), Hamann, U. (Ute), Manoochehri, M. (Mehdi), Lacey, J. V. (James V.), Martinez, M. E. (Maria Elena), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Yoo, K.-Y. (Keun-Young), Kang, D. (Daehee), Park, J. (JooYong), Choi, J.-Y. (Ji-Yeob), Choi, J. (Jaesung), Chung, S. (Seokang), Song, N. (Nan), Park, S. K. (Sue K.), Han, W. (Wonshik), Noh, D.-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Lee, J. W. (Jong Won), Kim, M. K. (Mi Kyung), Jee, S. H. (Sun Ha), Wen, W. (Wanqing), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Shah, M. (Mitul), Conroy, D. M. (Don M.), Harrington, P. A. (Patricia A.), Mayes, R. (Rebecca), Czene, K. (Kamila), Hall, P. (Per), Teras, L. R. (Lauren R.), Patel, A. V. (Alpa V.), Couch, F. J. (Fergus J.), Olson, J. E. (Janet E.), Sawyer, E. J. (Elinor J.), Roylance, R. (Rebecca), Bojesen, S. E. (Stig E.), Flyger, H. (Henrik), Lambrechts, D. (Diether), Baten, A. (Adinda), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Guenel, P. (Pascal), Truong, T. (Therese), Keeman, R. (Renske), Schmidt, M. K. (Marjanka K.), Wu, A. H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Cox, A. (Angela), Cross, S. S. (Simon S.), Andrulis, I. L. (Irene L.), Hopper, J. L. (John L.), Southey, M. C. (Melissa C.), Wu, P.-E. (Pei-Ei), Shen, C.-Y. (Chen-Yang), Fasching, P. A. (Peter A.), Ekici, A. B. (Arif B.), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Brenner, H. (Hermann), Arndt, V. (Volker), Jones, M. E. (Michael E.), Swerdlow, A. J. (Anthony J.), Hoppe, R. (Reiner), Ko, Y.-D. (Yon-Dschun), Hartman, M. (Mikael), Li, J. (Jingmei), Mannermaa, A. (Arto), Hartikainen, J. M. (Jaana M.), Benitez, J. (Javier), Gonzalez-Neira, A. (Anna), Haiman, C. A. (Christopher A.), Doerk, T. (Thilo), Bogdanova, N. V. (Natalia V.), Teo, S. H. (Soo Hwang), Mohd Taib, N. A. (Nur Aishah), Fletcher, O. (Olivia), Johnson, N. (Nichola), Grip, M. (Mervi), Winqvist, R. (Robert), Blomqvist, C. (Carl), Nevanlinna, H. (Heli), Lindblom, A. (Annika), Wendt, C. (Camilla), Kristensen, V. N. (Vessela N.), Tollenaar, R. A. (Rob A. E. M.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Radice, P. (Paolo), Bonanni, B. (Bernardo), Hamann, U. (Ute), Manoochehri, M. (Mehdi), Lacey, J. V. (James V.), Martinez, M. E. (Maria Elena), Dunning, A. M. (Alison M.), Pharoah, P. D. (Paul D. P.), Easton, D. F. (Douglas F.), Yoo, K.-Y. (Keun-Young), and Kang, D. (Daehee)

Abstract

In this study we aim to examine gene–environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean breast cancer cases and 2052 controls in the case-control study, the Seoul Breast Cancer Study (SEBCS). A total of 11,555 SNPs from the 137 candidate genes were included in the GxE analyses with eight established environmental factors. A replication test was conducted by using an independent population from the Breast Cancer Association Consortium (BCAC), with 62,485 Europeans and 9047 Asians. The GxE tests were performed by using two-step methods in GxEScan software. Two interactions were found in the SEBCS. The first interaction was shown between rs13035764 of NCOA1 and age at menarche in the GE|2df model (p-2df = 1.2 × 10−3). The age at menarche before 14 years old was associated with the high risk of breast cancer, and the risk was higher when subjects had homozygous minor allele G. The second GxE was shown between rs851998 near ESR1 and height in the GE|2df model (p-2df = 1.1 × 10−4). Height taller than 160 cm was associated with a high risk of breast cancer, and the risk increased when the minor allele was added. The findings were not replicated in the BCAC. These results would suggest specificity in Koreans for breast cancer risk.

Published
2021

2. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

Author

Glubb, D.M. (Dylan), Maranian, M. (Melanie), Michailidou, K. (Kyriaki), Pooley, K.A. (Karen), Meyer, K.B. (Kerstin), Kar, S. (Siddhartha), Carlebur, A.F.C., O'Reilly, M. (Marian), Betts, J.A. (Joshua), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Beesley, J. (Jonathan), Canisius, S. (Sander), Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Schoot, C.E. (Ellen) van der, Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Pharoah, P.D.P. (Paul D.P.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Surowy, H. (Harald), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Ko, Y.-D. (Yon-Dschun), Brüning, T. (Thomas), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tanaka, H. (Hideo), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Lambrechts, D. (Diether), Zhao, H. (Hui), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Capra, F. (Fabio), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), See, M.-H. (Mee-Hoong), Cornes, B.K. (Belinda), Cheng, C-Y. (Ching-Yu), Ikram, M.K. (Kamran), Kristensen, V. (Vessela), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Czene, K. (Kamila), Klevebring, D. (Daniel), Darabi, H. (Hatef), Eriksson, M. (Mikael), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Hall, P. (Per), Li, J. (Jingmei), Humphreys, K. (Keith), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y.-T. (Yu-Tang), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Shah, M. (Mitul), Ghoussaini, M. (Maya), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Hartman, M. (Mikael), Miao, X., Lim, W.-Y. (Wei-Yen), Tang, A. (Anthony), Hamann, U. (Ute), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Olswold, C. (Curtis), Slager, S. (Susan), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Brown, M. (Melissa), Ponder, B.A.J. (Bruce A.J.), Chenevix-Trench, G. (Georgia), Thompson, D. (Deborah), Edwards, S.L. (Stacey), Easton, D.F. (Douglas), Dunning, A.M. (Alison), French, J.D. (Juliet), Glubb, D.M. (Dylan), Maranian, M. (Melanie), Michailidou, K. (Kyriaki), Pooley, K.A. (Karen), Meyer, K.B. (Kerstin), Kar, S. (Siddhartha), Carlebur, A.F.C., O'Reilly, M. (Marian), Betts, J.A. (Joshua), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Beesley, J. (Jonathan), Canisius, S. (Sander), Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Schoot, C.E. (Ellen) van der, Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Pharoah, P.D.P. (Paul D.P.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Surowy, H. (Harald), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Ko, Y.-D. (Yon-Dschun), Brüning, T. (Thomas), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tanaka, H. (Hideo), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Lambrechts, D. (Diether), Zhao, H. (Hui), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Capra, F. (Fabio), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), See, M.-H. (Mee-Hoong), Cornes, B.K. (Belinda), Cheng, C-Y. (Ching-Yu), Ikram, M.K. (Kamran), Kristensen, V. (Vessela), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Czene, K. (Kamila), Klevebring, D. (Daniel), Darabi, H. (Hatef), Eriksson, M. (Mikael), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Hall, P. (Per), Li, J. (Jingmei), Humphreys, K. (Keith), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y.-T. (Yu-Tang), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Shah, M. (Mitul), Ghoussaini, M. (Maya), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Hartman, M. (Mikael), Miao, X., Lim, W.-Y. (Wei-Yen), Tang, A. (Anthony), Hamann, U. (Ute), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Olswold, C. (Curtis), Slager, S. (Susan), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Brown, M. (Melissa), Ponder, B.A.J. (Bruce A.J.), Chenevix-Trench, G. (Georgia), Thompson, D. (Deborah), Edwards, S.L. (Stacey), Easton, D.F. (Douglas), Dunning, A.M. (Alison), and French, J.D. (Juliet)

Abstract

Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER+: odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21-1.27, ptrend = 5.7 × 10-44) and estrogen-receptor-negative (ER-: OR = 1.10, 95% CI = 1.05-1.15, ptrend = 3.0 × 10-4) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [pcond = 1.61 × 10-5]) and five variants composing iCHAV3 (lead rs11949391; ER+: OR = 0.90, 95% CI = 0.87-0.93, pcond = 1.4 × 10-4). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival.

Published
2015
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3. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

Author

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

Abstract

INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years.METHODS: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics.RESULTS: We confirmed the association of rs10235235 with breast

Published
2014
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4. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: A case-control study

Author

Johnson, N. (Nichola), Dudbridge, F. (Frank), Orr, N. (Nick), Gibson, L.J. (Lorna), Jones, M. (Michael), Schoemaker, M. (Minouk), Folkerd, E.J. (Elizabeth J.), Haynes, B.P. (Ben P.), Hopper, J.L. (John), Southey, M.C. (Melissa), Dite, G.S. (Gillian), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Atsma, F. (Femke), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Renner, S.P. (S.), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Cordina, E. (Emilie), Menegaux, F. (Florence), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Bernstein, L. (Leslie), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Dur, C.C. (Christina Clarke), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Dieffenbach, A.K. (Aida Karina), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia V.), Antonenkova, N.N. (Natalia), Lindblom, A. (Annika), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Wu, A.H. (Anna), Van Den Berg, D. (David), Tseng, C.-C. (Chiu-Chen), Lambrechts, D. (Diether), Smeets, D. (Dominiek), Neven, P. (Patrick), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Pensotti, V. (Valeria), Couch, F.J. (Fergus), Olson, J.E. (Janet E.), Wang, X. (X.), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Giles, G.G. (Graham G.), Severi, G. (Gianluca), Baglietto, L. (Laura), Haiman, C.A. (Christopher A.), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Soucy, P. (Penny), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Phuah, S.-Y. (Sze-Yee), Cornes, B.K. (Belinda K.), Kristensen, V. (Vessela), Alnæs, G.G. (Grethe Grenaker), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Devillee, P. (Peter), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen J.), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hall, P. (Per), Schoof, N. (Nils), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Cross, S.S. (Simon), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Kang, D. (Daehee), Noh, D-Y. (Dong-Young), Park, S.K. (Sue K.), Choi, J.-Y. (Ji-Yeob), Hartman, J.M. (Joost), Miao, X., Lim, W.Y. (Wei Yen), Tang, A. (Anthony), Hamann, U. (Ute), Försti, A. (Asta), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Shen, C.-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), González-Neira, A. (Anna), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, J. (Jinxia), Easton, D.F. (Douglas F.), García-Closas, M. (Montserrat), Dowsett, M. (Mitch), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Dudbridge, F. (Frank), Orr, N. (Nick), Gibson, L.J. (Lorna), Jones, M. (Michael), Schoemaker, M. (Minouk), Folkerd, E.J. (Elizabeth J.), Haynes, B.P. (Ben P.), Hopper, J.L. (John), Southey, M.C. (Melissa), Dite, G.S. (Gillian), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Atsma, F. (Femke), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Renner, S.P. (S.), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Cordina, E. (Emilie), Menegaux, F. (Florence), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Bernstein, L. (Leslie), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Dur, C.C. (Christina Clarke), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Dieffenbach, A.K. (Aida Karina), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Ko, Y-D. (Yon-Dschun), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia V.), Antonenkova, N.N. (Natalia), Lindblom, A. (Annika), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Wu, A.H. (Anna), Van Den Berg, D. (David), Tseng, C.-C. (Chiu-Chen), Lambrechts, D. (Diether), Smeets, D. (Dominiek), Neven, P. (Patrick), Wildiers, H. (Hans), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Pensotti, V. (Valeria), Couch, F.J. (Fergus), Olson, J.E. (Janet E.), Wang, X. (X.), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Giles, G.G. (Graham G.), Severi, G. (Gianluca), Baglietto, L. (Laura), Haiman, C.A. (Christopher A.), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Soucy, P. (Penny), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Phuah, S.-Y. (Sze-Yee), Cornes, B.K. (Belinda K.), Kristensen, V. (Vessela), Alnæs, G.G. (Grethe Grenaker), Borresen-Dale, A.-L. (Anne-Lise), Zheng, W. (Wei), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Devillee, P. (Peter), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen J.), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hall, P. (Per), Schoof, N. (Nils), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Cross, S.S. (Simon), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Kang, D. (Daehee), Noh, D-Y. (Dong-Young), Park, S.K. (Sue K.), Choi, J.-Y. (Ji-Yeob), Hartman, J.M. (Joost), Miao, X., Lim, W.Y. (Wei Yen), Tang, A. (Anthony), Hamann, U. (Ute), Försti, A. (Asta), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Vachon, C. (Celine), Yannoukakos, D. (Drakoulis), Shen, C.-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), González-Neira, A. (Anna), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Dennis, J. (Joe), Michailidou, K. (Kyriaki), Bolla, M.K. (Manjeet K.), Wang, J. (Jinxia), Easton, D.F. (Douglas F.), García-Closas, M. (Montserrat), Dowsett, M. (Mitch), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, and Fletcher, O. (Olivia)

Abstract

Introduction: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years. Methods: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at

Published
2014
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5. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Author

Ghoussaini, M. (Maya), Edwards, S.L. (Stacey), Michailidou, K. (Kyriaki), Nord, S. (Silje), Cowper-Sallari, R. (Richard), Desai, K. (Kinjal), Kar, S. (Siddhartha), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Glubb, D.M. (Dylan), Beesley, J. (Jonathan), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dicks, E. (Ed), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Klevebring, D. (Daniel), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Neven, P. (Patrick), Wildiers, H. (Hans), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Gibson, L.J. (Lorna), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Hall, P. (Per), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Yatabe, Y. (Yasushi), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, Q. (Qiuyin), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Lee, D.S.C. (Daphne S.C.), Wong, T.Y. (Tien Yin), Hooning, M.J. (Maartje), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Kapuscinski, M.K. (Miroslav K.), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Chen, S.-T., Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, M. (Mikael), Miao, X., Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Teo, Y.Y. (Yik Ying), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Koto, Y.-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Hamann, U. (Ute), Torres, D. (Diana), Zheng, W. (Wei), Long, J. (Jirong), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Santiago, I. (Ines) de, Carroll, J. (Jason), Caldas, C. (Carlos), Brown, M. (Melissa), Lupien, M. (Mathieu), Kristensen, V. (Vessela), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), French, J.D. (Juliet), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Webb, P. (Penny), De Fazio, A. (Anna), Ghoussaini, M. (Maya), Edwards, S.L. (Stacey), Michailidou, K. (Kyriaki), Nord, S. (Silje), Cowper-Sallari, R. (Richard), Desai, K. (Kinjal), Kar, S. (Siddhartha), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Glubb, D.M. (Dylan), Beesley, J. (Jonathan), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dicks, E. (Ed), Guo, Q. (Qi), Schmidt, M.K. (Marjanka), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mats), Klevebring, D. (Daniel), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Lambrechts, D. (Diether), Thienpont, B. (Bernard), Neven, P. (Patrick), Wildiers, H. (Hans), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Gibson, L.J. (Lorna), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Hall, P. (Per), Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Yatabe, Y. (Yasushi), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, Q. (Qiuyin), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), Lee, D.S.C. (Daphne S.C.), Wong, T.Y. (Tien Yin), Hooning, M.J. (Maartje), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Deurzen, C.H.M. (Carolien) van, Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Kapuscinski, M.K. (Miroslav K.), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Chen, S.-T., Alnæs, G.G. (Grethe), Borresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, M. (Mikael), Miao, X., Buhari, S.A.B.S. (Shaik Ahmad Bin Syed), Teo, Y.Y. (Yik Ying), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Koto, Y.-D. (Yon-Dschun), Radice, P. (Paolo), Peterlongo, P. (Paolo), Bonnani, B. (Bernardo), Volorio, S. (Sara), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Hamann, U. (Ute), Torres, D. (Diana), Zheng, W. (Wei), Long, J. (Jirong), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Maranian, M. (Melanie), Healey, S. (Sue), González-Neira, A. (Anna), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Santiago, I. (Ines) de, Carroll, J. (Jason), Caldas, C. (Carlos), Brown, M. (Melissa), Lupien, M. (Mathieu), Kristensen, V. (Vessela), Pharoah, P.D.P. (Paul), Chenevix-Trench, G. (Georgia), French, J.D. (Juliet), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Webb, P. (Penny), and De Fazio, A. (Anna)

Abstract

GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the 'iCOGS' genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly correlated SNPs (rs4442975 G/T and rs6721996 G/A) are excluded as candidate causal variants at odds against >100:1. The best functional candidate, rs4442975, is associated with oestrogen receptor positive (ER+) disease with an odds ratio (OR) in Europeans of 0.85 (95% confidence interval=0.84-0.87; P=1.7 × 10-43) per t-allele. This SNP flanks a transcriptional enhancer that physically interacts with the promoter of IGFBP5 (encoding insulin-like growth factor-binding protein 5) and displays allele-specific gene expression, FOXA1 binding and chromatin looping. Evidence suggests that the g-allele confers increased breast cancer susceptibility through relative downregulation of IGFBP5, a gene with known roles in breast cell biology.

Published
2014
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6. 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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7. 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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8. 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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9. 7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium

Author

Milne, R.L. (Roger), Lorenzo-Bermejo, J. (Justo), Burwinkel, B. (Barbara), Malats, N. (Núria), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Humphreys, M.K. (Manjeet), García-Closas, M. (Montserrat), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Devilee, P. (Peter), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Irwanto, A. (Astrid), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xing), Fredericksen, Z. (Zachary), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Margolin, S. (Sara), Lindblom, A. (Annika), Fasching, P.A. (Peter), Schulz-Wendtland, R. (Rüdiger), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Wang-Gohrke, S. (Shan), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Wu, P.-E. (Pei-Ei), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), English, D.R. (Dallas), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Frank, B. (Bernd), Heil, J. (Joerg), Meindl, A. (Alfons), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Southey, M.C. (Melissa), Smith, L. (Letitia), Apicella, C. (Carmel), Hopper, J.L. (John), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Pharoah, P.D.P. (Paul), Hamann, U. (Ute), Pesch, B. (Beate), Ko, Y-D. (Yon-Dschun), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Milne, R.L. (Roger), Lorenzo-Bermejo, J. (Justo), Burwinkel, B. (Barbara), Malats, N. (Núria), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Humphreys, M.K. (Manjeet), García-Closas, M. (Montserrat), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Devilee, P. (Peter), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Irwanto, A. (Astrid), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xing), Fredericksen, Z. (Zachary), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Margolin, S. (Sara), Lindblom, A. (Annika), Fasching, P.A. (Peter), Schulz-Wendtland, R. (Rüdiger), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Wang-Gohrke, S. (Shan), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Wu, P.-E. (Pei-Ei), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), English, D.R. (Dallas), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Frank, B. (Bernd), Heil, J. (Joerg), Meindl, A. (Alfons), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Southey, M.C. (Melissa), Smith, L. (Letitia), Apicella, C. (Carmel), Hopper, J.L. (John), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Pharoah, P.D.P. (Paul), Hamann, U. (Ute), Pesch, B. (Beate), Ko, Y-D. (Yon-Dschun), Easton, D.F. (Douglas), and Chenevix-Trench, G. (Georgia)

Published
2011
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