Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Kyriaki Michailidou; Per Hall; Anna Gonzalez-Neira; Maya Ghoussaini; Joe Dennis; Roger L. Milne; Marjanka K. Schmidt; Jenny Chang-Claude; Stig E. Bojesen; Manjeet K. Bolla; Qin Wang; Ed Dicks; Andrew Lee; Clare Turnbull; Nazneen Rahman; Olivia Fletcher; Julian Peto; Lorna Gibson; Isabel Dos Santos Silva; Heli Nevanlinna; Taru A. Muranen; Kristiina Aittomäki; Carl Blomqvist; Kamila Czene; Astrid Irwanto; Jianjun Liu; Quinten Waisfisz; Hanne Meijers-Heijboer; Muriel Adank; Rob B. Van Der Luijt; Rebecca Hein; Norbert Dahmen; Lars Beckman; Alfons Meindl; Rita K. Schmutzler; Bertram Müller-Myhsok; Peter Lichtner; John L. Hopper; Melissa C. Southey; Enes Makalic; Daniel F. Schmidt; Andre G. Uitterlinden; Albert Hofman; David J. Hunter; Stephen J. Chanock; Daniel Vincent; François Bacot; Daniel C. Tessier; Sander Canisius; Lodewyk F.A. Wessels; Christopher A. Haiman; Mitul Shah; Robert Luben; Judith Brown; Craig Luccarini; Nils Schoof; Keith Humphreys; Jingmei Li; Børge G. Nordestgaard; Sune F. Nielsen; Henrik Flyger; Fergus J. Couch; Xianshu Wang; Celine Vachon; Kristen N. Stevens; Diether Lambrechts; Matthieu Moisse; Robert Paridaens; Marie Rose Christiaens; Anja Rudolph; Stefan Nickels; Dieter Flesch-Janys; Nichola Johnson; Zoe Aitken; Kirsimari Aaltonen; Tuomas Heikkinen; Annegien Broeks; Laura J.Van T. Veer; C. Ellen Van Der Schoot; Pascal Guénel; Thérèse Truong; Pierre Laurent-Puig; Florence Menegaux; Frederik Marme; Andreas Schneeweiss; Christof Sohn; Barbara Burwinkel; M. Pilar Zamora; Jose Ignacio Arias Perez; Guillermo Pita; M. Rosario Alonso; Angela Cox; Ian W. Brock; Simon S. Cross; Malcolm W.R. Reed; Elinor J. Sawyer; Ian Tomlinson; Michael J. Kerin; Nicola Miller; Brian E. Henderson; Fredrick Schumacher; Loic Le Marchand; Irene L. Andrulis; Julia A. Knight; Gord Glendon; Anna Marie Mulligan; Annika Lindblom; Sara Margolin; Maartje J. Hooning; Antoinette Hollestelle; Ans M.W. Van Den Ouweland; Agnes Jager; Quang M. Bui; Jennifer Stone; Gillian S. Dite; Carmel Apicella; Helen Tsimiklis; Graham G. Giles; Gianluca Severi; Laura Baglietto; Peter A. Fasching; Lothar Haeberle; Arif B. Ekici; Matthias W. Beckmann; Hermann Brenner; Heiko Müller; Volker Arndt; Christa Stegmaier; Anthony Swerdlow; Alan Ashworth; Nick Orr; Michael Jones; Jonine Figueroa; Jolanta Lissowska; Louise Brinton; Mark S. Goldberg; France Labrèche; Martine Dumont; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Mervi Grip; Hiltrud Brauch; Ute Hamann; Thomas Brüning; Paolo Radice; Paolo Peterlongo; Siranoush Manoukian; Bernardo Bonanni; Peter Devilee; Rob A.E.M. Tollenaar; Caroline Seynaeve; Christi J. Van Asperen; Anna Jakubowska; Jan Lubinski; Katarzyna Jaworska; Katarzyna Durda; Arto Mannermaa; Vesa Kataja; Veli Matti Kosma; Jaana M. Hartikainen; Natalia V. Bogdanova; Natalia N. Antonenkova; Thilo Dörk; Vessela N. Kristensen; Hoda Anton-Culver; Susan Slager; Amanda E. Toland; Stephen Edge; Florentia Fostira; Daehee Kang; Keun Young Yoo; Dong Young Noh; Keitaro Matsuo; Hidemi Ito; Hiroji Iwata; Aiko Sueta; Anna H. Wu; Chiu Chen Tseng; David Van Den Berg; Daniel O. Stram; Xiao Ou Shu; Wei Lu; Yu Tang Gao; Hui Cai; Soo Hwang Teo; Cheng Har Yip; Sze Yee Phuah; Belinda K. Cornes; Mikael Hartman; Hui Miao; Wei Yen Lim; Jen Hwei Sng; Kenneth Muir; Artitaya Lophatananon; Sarah Stewart-Brown; Pornthep Siriwanarangsan; Chen Yang Shen; Chia Ni Hsiung; Pei Ei Wu; Shian Ling Ding; Suleeporn Sangrajrang; Valerie Gaborieau; Paul Brennan; James McKay; William J. Blot; Lisa B. Signorello; Qiuyin Cai; Wei Zheng; Sandra Deming-Halverson; Martha Shrubsole; Jirong Long; Jacques Simard; Montse Garcia-Closas; Paul D.P. Pharoah; Georgia Chenevix-Trench; Alison M. Dunning; Javier Benitez; Douglas F. Easton

doi:10.1038/ng.2563

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Kyriaki Michailidou, Per Hall, Anna Gonzalez-Neira, Maya Ghoussaini, Joe Dennis, Roger L. Milne, Marjanka K. Schmidt, Jenny Chang-Claude, Stig E. Bojesen, Manjeet K. Bolla, Qin Wang, Ed Dicks, Andrew Lee, Clare Turnbull, Nazneen Rahman, Olivia Fletcher, Julian Peto, Lorna Gibson, Isabel Dos Santos Silva, Heli NevanlinnaTaru A. Muranen, Kristiina Aittomäki, Carl Blomqvist, Kamila Czene, Astrid Irwanto, Jianjun Liu, Quinten Waisfisz, Hanne Meijers-Heijboer, Muriel Adank, Rob B. Van Der Luijt, Rebecca Hein, Norbert Dahmen, Lars Beckman, Alfons Meindl, Rita K. Schmutzler, Bertram Müller-Myhsok, Peter Lichtner, John L. Hopper, Melissa C. Southey, Enes Makalic, Daniel F. Schmidt, Andre G. Uitterlinden, Albert Hofman, David J. Hunter, Stephen J. Chanock, Daniel Vincent, François Bacot, Daniel C. Tessier, Sander Canisius, Lodewyk F.A. Wessels, Christopher A. Haiman, Mitul Shah, Robert Luben, Judith Brown, Craig Luccarini, Nils Schoof, Keith Humphreys, Jingmei Li, Børge G. Nordestgaard, Sune F. Nielsen, Henrik Flyger, Fergus J. Couch, Xianshu Wang, Celine Vachon, Kristen N. Stevens, Diether Lambrechts, Matthieu Moisse, Robert Paridaens, Marie Rose Christiaens, Anja Rudolph, Stefan Nickels, Dieter Flesch-Janys, Nichola Johnson, Zoe Aitken, Kirsimari Aaltonen, Tuomas Heikkinen, Annegien Broeks, Laura J.Van T. Veer, C. Ellen Van Der Schoot, Pascal Guénel, Thérèse Truong, Pierre Laurent-Puig, Florence Menegaux, Frederik Marme, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, M. Pilar Zamora, Jose Ignacio Arias Perez, Guillermo Pita, M. Rosario Alonso, Angela Cox, Ian W. Brock, Simon S. Cross, Malcolm W.R. Reed, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Brian E. Henderson, Fredrick Schumacher, Loic Le Marchand, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Anna Marie Mulligan, Annika Lindblom, Sara Margolin, Maartje J. Hooning, Antoinette Hollestelle, Ans M.W. Van Den Ouweland, Agnes Jager, Quang M. Bui, Jennifer Stone, Gillian S. Dite, Carmel Apicella, Helen Tsimiklis, Graham G. Giles, Gianluca Severi, Laura Baglietto, Peter A. Fasching, Lothar Haeberle, Arif B. Ekici, Matthias W. Beckmann, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Anthony Swerdlow, Alan Ashworth, Nick Orr, Michael Jones, Jonine Figueroa, Jolanta Lissowska, Louise Brinton, Mark S. Goldberg, France Labrèche, Martine Dumont, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Hiltrud Brauch, Ute Hamann, Thomas Brüning, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Bernardo Bonanni, Peter Devilee, Rob A.E.M. Tollenaar, Caroline Seynaeve, Christi J. Van Asperen, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Arto Mannermaa, Vesa Kataja, Veli Matti Kosma, Jaana M. Hartikainen, Natalia V. Bogdanova, Natalia N. Antonenkova, Thilo Dörk, Vessela N. Kristensen, Hoda Anton-Culver, Susan Slager, Amanda E. Toland, Stephen Edge, Florentia Fostira, Daehee Kang, Keun Young Yoo, Dong Young Noh, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Aiko Sueta, Anna H. Wu, Chiu Chen Tseng, David Van Den Berg, Daniel O. Stram, Xiao Ou Shu, Wei Lu, Yu Tang Gao, Hui Cai, Soo Hwang Teo, Cheng Har Yip, Sze Yee Phuah, Belinda K. Cornes, Mikael Hartman, Hui Miao, Wei Yen Lim, Jen Hwei Sng, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart-Brown, Pornthep Siriwanarangsan, Chen Yang Shen, Chia Ni Hsiung, Pei Ei Wu, Shian Ling Ding, Suleeporn Sangrajrang, Valerie Gaborieau, Paul Brennan, James McKay, William J. Blot, Lisa B. Signorello, Qiuyin Cai, Wei Zheng, Sandra Deming-Halverson, Martha Shrubsole, Jirong Long, Jacques Simard, Montse Garcia-Closas, Paul D.P. Pharoah, Georgia Chenevix-Trench, Alison M. Dunning, Javier Benitez, Douglas F. Easton

Research output: Contribution to journal › Article › peer-review

747 Scopus citations

Abstract

Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10 -8). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.

Original language	English (US)
Pages (from-to)	353-361
Number of pages	9
Journal	Nature genetics
Volume	45
Issue number	4
DOIs	https://doi.org/10.1038/ng.2563
State	Published - Apr 2013
Externally published	Yes

ASJC Scopus subject areas

Genetics

Access to Document

10.1038/ng.2563

Cite this

Michailidou, K., Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R. L., Schmidt, M. K., Chang-Claude, J., Bojesen, S. E., Bolla, M. K., Wang, Q., Dicks, E., Lee, A., Turnbull, C., Rahman, N., Fletcher, O., Peto, J., Gibson, L., Dos Santos Silva, I., ... Easton, D. F. (2013). Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nature genetics, 45(4), 353-361. https://doi.org/10.1038/ng.2563

Michailidou, K, Hall, P, Gonzalez-Neira, A, Ghoussaini, M, Dennis, J, Milne, RL, Schmidt, MK, Chang-Claude, J, Bojesen, SE, Bolla, MK, Wang, Q, Dicks, E, Lee, A, Turnbull, C, Rahman, N, Fletcher, O, Peto, J, Gibson, L, Dos Santos Silva, I, Nevanlinna, H, Muranen, TA, Aittomäki, K, Blomqvist, C, Czene, K, Irwanto, A, Liu, J, Waisfisz, Q, Meijers-Heijboer, H, Adank, M, Van Der Luijt, RB, Hein, R, Dahmen, N, Beckman, L, Meindl, A, Schmutzler, RK, Müller-Myhsok, B, Lichtner, P, Hopper, JL, Southey, MC, Makalic, E, Schmidt, DF, Uitterlinden, AG, Hofman, A, Hunter, DJ, Chanock, SJ, Vincent, D, Bacot, F, Tessier, DC, Canisius, S, Wessels, LFA, Haiman, CA, Shah, M, Luben, R, Brown, J, Luccarini, C, Schoof, N, Humphreys, K, Li, J, Nordestgaard, BG, Nielsen, SF, Flyger, H, Couch, FJ, Wang, X, Vachon, C, Stevens, KN, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, MR, Rudolph, A, Nickels, S, Flesch-Janys, D, Johnson, N, Aitken, Z, Aaltonen, K, Heikkinen, T, Broeks, A, Veer, LJVT, Van Der Schoot, CE, Guénel, P, Truong, T, Laurent-Puig, P, Menegaux, F, Marme, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Zamora, MP, Perez, JIA, Pita, G, Alonso, MR, Cox, A, Brock, IW, Cross, SS, Reed, MWR, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Henderson, BE, Schumacher, F, Le Marchand, L, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Lindblom, A, Margolin, S, Hooning, MJ, Hollestelle, A, Van Den Ouweland, AMW, Jager, A, Bui, QM, Stone, J, Dite, GS, Apicella, C, Tsimiklis, H, Giles, GG, Severi, G, Baglietto, L, Fasching, PA, Haeberle, L, Ekici, AB, Beckmann, MW, Brenner, H, Müller, H, Arndt, V, Stegmaier, C, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Figueroa, J, Lissowska, J, Brinton, L, Goldberg, MS, Labrèche, F, Dumont, M, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Brauch, H, Hamann, U, Brüning, T, Radice, P, Peterlongo, P, Manoukian, S, Bonanni, B, Devilee, P, Tollenaar, RAEM, Seynaeve, C, Van Asperen, CJ, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Bogdanova, NV, Antonenkova, NN, Dörk, T, Kristensen, VN, Anton-Culver, H, Slager, S, Toland, AE, Edge, S, Fostira, F, Kang, D, Yoo, KY, Noh, DY, Matsuo, K, Ito, H, Iwata, H, Sueta, A, Wu, AH, Tseng, CC, Van Den Berg, D, Stram, DO, Shu, XO, Lu, W, Gao, YT, Cai, H, Teo, SH, Yip, CH, Phuah, SY, Cornes, BK, Hartman, M, Miao, H, Lim, WY, Sng, JH, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Shen, CY, Hsiung, CN, Wu, PE, Ding, SL, Sangrajrang, S, Gaborieau, V, Brennan, P, McKay, J, Blot, WJ, Signorello, LB, Cai, Q, Zheng, W, Deming-Halverson, S, Shrubsole, M, Long, J, Simard, J, Garcia-Closas, M, Pharoah, PDP, Chenevix-Trench, G, Dunning, AM, Benitez, J & Easton, DF 2013, 'Large-scale genotyping identifies 41 new loci associated with breast cancer risk', Nature genetics, vol. 45, no. 4, pp. 353-361. https://doi.org/10.1038/ng.2563

@article{df7ac4adcef14d15ac855a469a5cd177,

title = "Large-scale genotyping identifies 41 new loci associated with breast cancer risk",

abstract = "Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10 -8). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.",

author = "Kyriaki Michailidou and Per Hall and Anna Gonzalez-Neira and Maya Ghoussaini and Joe Dennis and Milne, {Roger L.} and Schmidt, {Marjanka K.} and Jenny Chang-Claude and Bojesen, {Stig E.} and Bolla, {Manjeet K.} and Qin Wang and Ed Dicks and Andrew Lee and Clare Turnbull and Nazneen Rahman and Olivia Fletcher and Julian Peto and Lorna Gibson and {Dos Santos Silva}, Isabel and Heli Nevanlinna and Muranen, {Taru A.} and Kristiina Aittom{\"a}ki and Carl Blomqvist and Kamila Czene and Astrid Irwanto and Jianjun Liu and Quinten Waisfisz and Hanne Meijers-Heijboer and Muriel Adank and {Van Der Luijt}, {Rob B.} and Rebecca Hein and Norbert Dahmen and Lars Beckman and Alfons Meindl and Schmutzler, {Rita K.} and Bertram M{\"u}ller-Myhsok and Peter Lichtner and Hopper, {John L.} and Southey, {Melissa C.} and Enes Makalic and Schmidt, {Daniel F.} and Uitterlinden, {Andre G.} and Albert Hofman and Hunter, {David J.} and Chanock, {Stephen J.} and Daniel Vincent and Fran{\c c}ois Bacot and Tessier, {Daniel C.} and Sander Canisius and Wessels, {Lodewyk F.A.} and Haiman, {Christopher A.} and Mitul Shah and Robert Luben and Judith Brown and Craig Luccarini and Nils Schoof and Keith Humphreys and Jingmei Li and Nordestgaard, {B{\o}rge G.} and Nielsen, {Sune F.} and Henrik Flyger and Couch, {Fergus J.} and Xianshu Wang and Celine Vachon and Stevens, {Kristen N.} and Diether Lambrechts and Matthieu Moisse and Robert Paridaens and Christiaens, {Marie Rose} and Anja Rudolph and Stefan Nickels and Dieter Flesch-Janys and Nichola Johnson and Zoe Aitken and Kirsimari Aaltonen and Tuomas Heikkinen and Annegien Broeks and Veer, {Laura J.Van T.} and {Van Der Schoot}, {C. Ellen} and Pascal Gu{\'e}nel and Th{\'e}r{\`e}se Truong and Pierre Laurent-Puig and Florence Menegaux and Frederik Marme and Andreas Schneeweiss and Christof Sohn and Barbara Burwinkel and Zamora, {M. Pilar} and Perez, {Jose Ignacio Arias} and Guillermo Pita and Alonso, {M. Rosario} and Angela Cox and Brock, {Ian W.} and Cross, {Simon S.} and Reed, {Malcolm W.R.} and Sawyer, {Elinor J.} and Ian Tomlinson and Kerin, {Michael J.} and Nicola Miller and Henderson, {Brian E.} and Fredrick Schumacher and {Le Marchand}, Loic and Andrulis, {Irene L.} and Knight, {Julia A.} and Gord Glendon and Mulligan, {Anna Marie} and Annika Lindblom and Sara Margolin and Hooning, {Maartje J.} and Antoinette Hollestelle and {Van Den Ouweland}, {Ans M.W.} and Agnes Jager and Bui, {Quang M.} and Jennifer Stone and Dite, {Gillian S.} and Carmel Apicella and Helen Tsimiklis and Giles, {Graham G.} and Gianluca Severi and Laura Baglietto and Fasching, {Peter A.} and Lothar Haeberle and Ekici, {Arif B.} and Beckmann, {Matthias W.} and Hermann Brenner and Heiko M{\"u}ller and Volker Arndt and Christa Stegmaier and Anthony Swerdlow and Alan Ashworth and Nick Orr and Michael Jones and Jonine Figueroa and Jolanta Lissowska and Louise Brinton and Goldberg, {Mark S.} and France Labr{\`e}che and Martine Dumont and Robert Winqvist and Katri Pylk{\"a}s and Arja Jukkola-Vuorinen and Mervi Grip and Hiltrud Brauch and Ute Hamann and Thomas Br{\"u}ning and Paolo Radice and Paolo Peterlongo and Siranoush Manoukian and Bernardo Bonanni and Peter Devilee and Tollenaar, {Rob A.E.M.} and Caroline Seynaeve and {Van Asperen}, {Christi J.} and Anna Jakubowska and Jan Lubinski and Katarzyna Jaworska and Katarzyna Durda and Arto Mannermaa and Vesa Kataja and Kosma, {Veli Matti} and Hartikainen, {Jaana M.} and Bogdanova, {Natalia V.} and Antonenkova, {Natalia N.} and Thilo D{\"o}rk and Kristensen, {Vessela N.} and Hoda Anton-Culver and Susan Slager and Toland, {Amanda E.} and Stephen Edge and Florentia Fostira and Daehee Kang and Yoo, {Keun Young} and Noh, {Dong Young} and Keitaro Matsuo and Hidemi Ito and Hiroji Iwata and Aiko Sueta and Wu, {Anna H.} and Tseng, {Chiu Chen} and {Van Den Berg}, David and Stram, {Daniel O.} and Shu, {Xiao Ou} and Wei Lu and Gao, {Yu Tang} and Hui Cai and Teo, {Soo Hwang} and Yip, {Cheng Har} and Phuah, {Sze Yee} and Cornes, {Belinda K.} and Mikael Hartman and Hui Miao and Lim, {Wei Yen} and Sng, {Jen Hwei} and Kenneth Muir and Artitaya Lophatananon and Sarah Stewart-Brown and Pornthep Siriwanarangsan and Shen, {Chen Yang} and Hsiung, {Chia Ni} and Wu, {Pei Ei} and Ding, {Shian Ling} and Suleeporn Sangrajrang and Valerie Gaborieau and Paul Brennan and James McKay and Blot, {William J.} and Signorello, {Lisa B.} and Qiuyin Cai and Wei Zheng and Sandra Deming-Halverson and Martha Shrubsole and Jirong Long and Jacques Simard and Montse Garcia-Closas and Pharoah, {Paul D.P.} and Georgia Chenevix-Trench and Dunning, {Alison M.} and Javier Benitez and Easton, {Douglas F.}",

note = "Funding Information: enabled this work to be carried out. BCAC is funded by Cancer Research UK (C1287/A10118 and C1287/A12014) and by the European Community{\textquoteright}s Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS). Meetings of BCAC have been funded by the European Union European Cooperation in Science and Technology (COST) programme (BM0606). Genotyping of the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer program and the Ministry of Economic Development, Innovation and Export Trade of Quebec (grant PSR-SIIRI-701). Combining the GWAS data was supported in part by the US National Institutes of Health (NIH) Cancer Post-Cancer GWAS initiative grant 1 U19 CA 148065-01 (DRIVE, part of the GAME-ON initiative). A full description of funding and acknowledgments is provided in the Supplementary Note.",

year = "2013",

month = apr,

doi = "10.1038/ng.2563",

language = "English (US)",

volume = "45",

pages = "353--361",

journal = "Nature genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "4",

}

TY - JOUR

T1 - Large-scale genotyping identifies 41 new loci associated with breast cancer risk

AU - Michailidou, Kyriaki

AU - Hall, Per

AU - Gonzalez-Neira, Anna

AU - Ghoussaini, Maya

AU - Dennis, Joe

AU - Milne, Roger L.

AU - Schmidt, Marjanka K.

AU - Chang-Claude, Jenny

AU - Bojesen, Stig E.

AU - Bolla, Manjeet K.

AU - Wang, Qin

AU - Dicks, Ed

AU - Lee, Andrew

AU - Turnbull, Clare

AU - Rahman, Nazneen

AU - Fletcher, Olivia

AU - Peto, Julian

AU - Gibson, Lorna

AU - Dos Santos Silva, Isabel

AU - Nevanlinna, Heli

AU - Muranen, Taru A.

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Czene, Kamila

AU - Irwanto, Astrid

AU - Liu, Jianjun

AU - Waisfisz, Quinten

AU - Meijers-Heijboer, Hanne

AU - Adank, Muriel

AU - Van Der Luijt, Rob B.

AU - Hein, Rebecca

AU - Dahmen, Norbert

AU - Beckman, Lars

AU - Meindl, Alfons

AU - Schmutzler, Rita K.

AU - Müller-Myhsok, Bertram

AU - Lichtner, Peter

AU - Hopper, John L.

AU - Southey, Melissa C.

AU - Makalic, Enes

AU - Schmidt, Daniel F.

AU - Uitterlinden, Andre G.

AU - Hofman, Albert

AU - Hunter, David J.

AU - Chanock, Stephen J.

AU - Vincent, Daniel

AU - Bacot, François

AU - Tessier, Daniel C.

AU - Canisius, Sander

AU - Wessels, Lodewyk F.A.

AU - Haiman, Christopher A.

AU - Shah, Mitul

AU - Luben, Robert

AU - Brown, Judith

AU - Luccarini, Craig

AU - Schoof, Nils

AU - Humphreys, Keith

AU - Li, Jingmei

AU - Nordestgaard, Børge G.

AU - Nielsen, Sune F.

AU - Flyger, Henrik

AU - Couch, Fergus J.

AU - Wang, Xianshu

AU - Vachon, Celine

AU - Stevens, Kristen N.

AU - Lambrechts, Diether

AU - Moisse, Matthieu

AU - Paridaens, Robert

AU - Christiaens, Marie Rose

AU - Rudolph, Anja

AU - Nickels, Stefan

AU - Flesch-Janys, Dieter

AU - Johnson, Nichola

AU - Aitken, Zoe

AU - Aaltonen, Kirsimari

AU - Heikkinen, Tuomas

AU - Broeks, Annegien

AU - Veer, Laura J.Van T.

AU - Van Der Schoot, C. Ellen

AU - Guénel, Pascal

AU - Truong, Thérèse

AU - Laurent-Puig, Pierre

AU - Menegaux, Florence

AU - Marme, Frederik

AU - Schneeweiss, Andreas

AU - Sohn, Christof

AU - Burwinkel, Barbara

AU - Zamora, M. Pilar

AU - Perez, Jose Ignacio Arias

AU - Pita, Guillermo

AU - Alonso, M. Rosario

AU - Cox, Angela

AU - Brock, Ian W.

AU - Cross, Simon S.

AU - Reed, Malcolm W.R.

AU - Sawyer, Elinor J.

AU - Tomlinson, Ian

AU - Kerin, Michael J.

AU - Miller, Nicola

AU - Henderson, Brian E.

AU - Schumacher, Fredrick

AU - Le Marchand, Loic

AU - Andrulis, Irene L.

AU - Knight, Julia A.

AU - Glendon, Gord

AU - Mulligan, Anna Marie

AU - Lindblom, Annika

AU - Margolin, Sara

AU - Hooning, Maartje J.

AU - Hollestelle, Antoinette

AU - Van Den Ouweland, Ans M.W.

AU - Jager, Agnes

AU - Bui, Quang M.

AU - Stone, Jennifer

AU - Dite, Gillian S.

AU - Apicella, Carmel

AU - Tsimiklis, Helen

AU - Giles, Graham G.

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - Fasching, Peter A.

AU - Haeberle, Lothar

AU - Ekici, Arif B.

AU - Beckmann, Matthias W.

AU - Brenner, Hermann

AU - Müller, Heiko

AU - Arndt, Volker

AU - Stegmaier, Christa

AU - Swerdlow, Anthony

AU - Ashworth, Alan

AU - Orr, Nick

AU - Jones, Michael

AU - Figueroa, Jonine

AU - Lissowska, Jolanta

AU - Brinton, Louise

AU - Goldberg, Mark S.

AU - Labrèche, France

AU - Dumont, Martine

AU - Winqvist, Robert

AU - Pylkäs, Katri

AU - Jukkola-Vuorinen, Arja

AU - Grip, Mervi

AU - Brauch, Hiltrud

AU - Hamann, Ute

AU - Brüning, Thomas

AU - Radice, Paolo

AU - Peterlongo, Paolo

AU - Manoukian, Siranoush

AU - Bonanni, Bernardo

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N1 - Funding Information: enabled this work to be carried out. BCAC is funded by Cancer Research UK (C1287/A10118 and C1287/A12014) and by the European Community’s Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS). Meetings of BCAC have been funded by the European Union European Cooperation in Science and Technology (COST) programme (BM0606). Genotyping of the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer program and the Ministry of Economic Development, Innovation and Export Trade of Quebec (grant PSR-SIIRI-701). Combining the GWAS data was supported in part by the US National Institutes of Health (NIH) Cancer Post-Cancer GWAS initiative grant 1 U19 CA 148065-01 (DRIVE, part of the GAME-ON initiative). A full description of funding and acknowledgments is provided in the Supplementary Note.

PY - 2013/4

Y1 - 2013/4

N2 - Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10 -8). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.

AB - Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10 -8). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.

UR - http://www.scopus.com/inward/record.url?scp=84875703379&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84875703379&partnerID=8YFLogxK

U2 - 10.1038/ng.2563

DO - 10.1038/ng.2563

M3 - Article

C2 - 23535729

AN - SCOPUS:84875703379

SN - 1061-4036

VL - 45

SP - 353

EP - 361

JO - Nature genetics

JF - Nature genetics

IS - 4

ER -

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

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