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

被引：842

作者：

Michailidou, Kyriaki ^{[1
]}

Hall, Per

Gonzalez-Neira, Anna ^{[3
]}

Ghoussaini, Maya ^{[4
]}

Dennis, Joe ^{[1
]}

Milne, Roger L. ^{[5
]}

Schmidt, Marjanka K. ^{[6
,7
]}

Chang-Claude, Jenny ^{[8
]}

Bojesen, Stig E. ^{[9
]}

Bolla, Manjeet K. ^{[1
]}

Wang, Qin ^{[1
]}

Dicks, Ed ^{[4
]}

Lee, Andrew ^{[1
]}

Turnbull, Clare ^{[11
]}

Rahman, Nazneen ^{[11
]}

Fletcher, Olivia ^{[12
]}

Peto, Julian ^{[13
]}

Gibson, Lorna ^{[13
]}

Silva, Isabel dos Santos ^{[13
]}

Nevanlinna, Heli ^{[14
,15
]}

Muranen, Taru A. ^{[14
,15
]}

Aittomaki, Kristiina ^{[15
,16
]}

Blomqvist, Carl ^{[15
,17
]}

Czene, Kamila ^{[2
]}

Irwanto, Astrid ^{[18
]}

Liu, Jianjun ^{[18
]}

Waisfisz, Quinten ^{[19
]}

Meijers-Heijboer, Hanne ^{[19
]}

Adank, Muriel ^{[19
]}

van der Luijt, Rob B. ^{[20
]}

Hein, Rebecca ^{[8
,21
]}

Dahmen, Norbert ^{[22
]}

Beckman, Lars ^{[23
]}

Meindl, Alfons ^{[24
]}

Schmutzler, Rita K. ^{[25
,26
]}

Mueller-Myhsok, Bertram ^{[27
]}

Lichtner, Peter ^{[28
]}

Hopper, John L. ^{[29
]}

Southey, Melissa C. ^{[30
]}

Makalic, Enes ^{[29
]}

Schmidt, Daniel F. ^{[29
]}

Uitterlinden, Andre G. ^{[31
]}

Hofman, Albert ^{[2
,3
,32
]}

Hunter, David J. ^{[33
]}

Chanock, Stephen J. ^{[34
]}

Vincent, Daniel ^{[35
,36
]}

Bacot, Francois ^{[35
,36
]}

Tessier, Daniel C. ^{[35
,36
]}

Canisius, Sander ^{[37
]}

Wessels, Lodewyk F. A. ^{[37
]}

机构：

[1] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

[2] Karolinska Inst, Stockholm, Sweden

[3] Spanish Natl Canc Res Ctr CNIO, Human Canc Genet Programme, Human Genotyping Unit, Ctr Nacl Genotipado CEGEN, Madrid, Spain

[4] Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England

[5] CNIO, Human Canc Genet Programme, Genet & Mol Epidemiol Grp, Madrid, Spain

[6] Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Div Mol Pathol, Amsterdam, Netherlands

[7] Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Div Psychosocial Res & Epidemiol, Amsterdam, Netherlands

[8] Deutsch Krebsforschungszentrum, Div Canc Epidemiol, Heidelberg, Germany

[9] Copenhagen Univ Hosp, Herlev Hosp, Copenhagen Gen Populat Study, Copenhagen, Denmark

[10] Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, Copenhagen, Denmark

[11] Inst Canc Res, Div Genet & Epidemiol, Sutton, Surrey, England

[12] Inst Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England

[13] London Sch Hyg & Trop Med, Dept Noncommunicable Dis Epidemiol, London WC1, England

[14] Univ Helsinki, Dept Obstet & Gynecol, Helsinki, Finland

[15] Univ Helsinki, Cent Hosp, Helsinki, Finland

[16] Univ Helsinki, Dept Clin Genet, Helsinki, Finland

[17] Univ Helsinki, Dept Oncol, Helsinki, Finland

[18] Genome Inst Singapore, Div Human Genet, Singapore, Singapore

[19] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Sect Oncogenet, Amsterdam, Netherlands

[20] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

[21] Univ Cologne, Dept Child & Adolescent Psychiat & Psychotherapy, PMV Primar Med Versorgung Res Grp, D-50931 Cologne, Germany

[22] Johannes Gutenberg Univ Mainz, Dept Psychiat, D-55122 Mainz, Germany

[23] Inst Qual & Efficiency Hlth Care IQWiG, Cologne, Germany

[24] Tech Univ Munich, Clin Gynaecol & Obstet, Div Gynaecol Tumor Genet, D-80290 Munich, Germany

[25] Univ Cologne, Ctr Familial Breast & Ovarian Canc, D-50931 Cologne, Germany

[26] Univ Cologne, Ctr Mol Med CMMC, D-50931 Cologne, Germany

[27] Univ Cologne, Max Planck Inst Psychiat, D-50931 Cologne, Germany

[28] Helmholtz Zentrum Munchen German Res Ctr Environm, Inst Human Genet, Neuherberg, Germany

[29] Univ Melbourne, Melbourne Sch Populat Hlth, Ctr Mol Environm Genet & Analyt Epidemiol, Melbourne, Vic, Australia

[30] Univ Melbourne, Dept Pathol, Genet Epidemiol Lab, Melbourne, Vic, Australia

[31] Erasmus MC, Dept Internal Med, Rotterdam, Netherlands

[32] Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands

[33] Harvard Univ, Sch Publ Hlth, Program Mol & Genet Epidemiol, Boston, MA 02115 USA

[34] NCI, Div Canc Epidemiol & Genet, Rockville, MD USA

[35] McGill Univ, Montreal, PQ, Canada

[36] Genome Quebec Innovat Ctr, Montreal, PQ, Canada

[37] Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Div Mol Carcinogenesis, Amsterdam, Netherlands

[38] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[39] Copenhagen Univ Hosp, Herlev Hosp, Dept Breast Surg, Copenhagen, Denmark

[40] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[41] Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA

[42] VIB, Vesalius Res Ctr, Louvain, Belgium

[43] Univ Louvain, Dept Oncol, Lab Translat Genet, Louvain, Belgium

[44] Univ Louvain, Dept Oncol, Univ Hosp Gasthuisberg, Louvain, Belgium

[45] Univ Clin Hamburg Eppendorf, Dept Canc Epidemiol, Clin Canc Registry, Hamburg, Germany

[46] Univ Clin Hamburg Eppendorf, Inst Med Biometr & Epidemiol, Hamburg, Germany

[47] Sanquin Res, Amsterdam, Netherlands

[48] INSERM Natl Inst Hlth & Med Res, CESP Ctr Res Epidemiol & Populat Hlth, U1018, Villejuif, France

[49] Univ Paris 11, Unite Mixte Rech Sci UMRS 1018, Villejuif, France

[50] Univ Paris 04, INSERM, UMRS 775, Paris, France

来源：

NATURE GENETICS | 2013年 / 45卷 / 04期

基金：

加拿大健康研究院; 美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; COMMON VARIANTS; CONFER SUSCEPTIBILITY; SIGNALING PATHWAY; GENE; EXPRESSION; PROSTATE; ALLELES; 1P11.2;

D O I：

10.1038/ng.2563

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 similar to 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 x 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.

引用

页码：353 / 361

页数：9

共 50 条

[1] 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
Nature Genetics, 2013, 45 : 353 - 361
[2] Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk
Zhang, Ben
Jia, Wei-Hua
Matsuda, Koichi
Kweon, Sun-Seog
Matsuo, Keitaro
Xiang, Yong-Bing
Shin, Aesun
Jee, Sun Ha
Kim, Dong-Hyun
Cai, Qiuyin
Long, Jirong
Shi, Jiajun
Wen, Wanqing
Yang, Gong
Zhang, Yanfeng
Li, Chun
Li, Bingshan
Guo, Yan
Ren, Zefang
Ji, Bu-Tian
Pan, Zhi-Zhong
Takahashi, Atsushi
Shin, Min-Ho
Matsuda, Fumihiko
Gao, Yu-Tang
Oh, Jae Hwan
Kim, Soriul
Ahn, Yoon-Ok
Chan, Andrew T.
Chang-Claude, Jenny
Slattery, Martha L.
Gruber, Stephen B.
Schumacher, Fredrick R.
Stenzel, Stephanie L.
Casey, Graham
Kim, Hyeong-Rok
Jeong, Jin-Young
Park, Ji Won
Li, Hong-Lan
Hosono, Satoyo
Cho, Sang-Hee
Kubo, Michiaki
Shu, Xiao-Ou
Zeng, Yi-Xin
Zheng, Wei
NATURE GENETICS, 2014, 46 (06) : 533 - 542
[3] Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk
Ben Zhang
Wei-Hua Jia
Koichi Matsuda
Sun-Seog Kweon
Keitaro Matsuo
Yong-Bing Xiang
Aesun Shin
Sun Ha Jee
Dong-Hyun Kim
Qiuyin Cai
Jirong Long
Jiajun Shi
Wanqing Wen
Gong Yang
Yanfeng Zhang
Chun Li
Bingshan Li
Yan Guo
Zefang Ren
Bu-Tian Ji
Zhi-Zhong Pan
Atsushi Takahashi
Min-Ho Shin
Fumihiko Matsuda
Yu-Tang Gao
Jae Hwan Oh
Soriul Kim
Yoon-Ok Ahn
Andrew T Chan
Jenny Chang-Claude
Martha L Slattery
Stephen B Gruber
Fredrick R Schumacher
Stephanie L Stenzel
Graham Casey
Hyeong-Rok Kim
Jin-Young Jeong
Ji Won Park
Hong-Lan Li
Satoyo Hosono
Sang-Hee Cho
Michiaki Kubo
Xiao-Ou Shu
Yi-Xin Zeng
Wei Zheng
Nature Genetics, 2014, 46 : 533 - 542
[4] Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size
Li, Jingmei
Foo, Jia Nee
Schoof, Nils
Varghese, Jajini S.
Fernandez-Navarro, Pablo
Gierach, Gretchen L.
Quek, Swee Tian
Hartman, Mikael
Nord, Silje
Kristensen, Vessela N.
Pollan, Marina
Figueroa, Jonine D.
Thompson, Deborah J.
Li, Yi
Khor, Chiea Chuen
Humphreys, Keith
Liu, Jianjun
Czene, Kamila
Hall, Per
JOURNAL OF MEDICAL GENETICS, 2013, 50 (10) : 666 - 673
[5] Large-scale association analysis identifies new risk loci for coronary artery disease
Deloukas, Panos
Kanoni, Stavroula
Willenborg, Christina
Farrall, Martin
Assimes, Themistocles L.
Thompson, John R.
Ingelsson, Erik
Saleheen, Danish
Erdmann, Jeanette
Goldstein, Benjamin A.
Stirrups, Kathleen
Koenig, Inke R.
Cazier, Jean-Baptiste
Johansson, Asa
Hall, Alistair S.
Lee, Jong-Young
Willer, Cristen J.
Chambers, John C.
Esko, Tonu
Folkersen, Lasse
Goel, Anuj
Grundberg, Elin
Havulinna, Aki S.
Ho, Weang K.
Hopewell, Jemma C.
Eriksson, Niclas
Kleber, Marcus E.
Kristiansson, Kati
Lundmark, Per
Lyytikainen, Leo-Pekka
Rafelt, Suzanne
Shungin, Dmitry
Strawbridge, Rona J.
Thorleifsson, Gudmar
Tikkanen, Emmi
Van Zuydam, Natalie
Voight, Benjamin F.
Waite, Lindsay L.
Zhang, Weihua
Ziegler, Andreas
Absher, Devin
Altshuler, David
Balmforth, Anthony J.
Barroso, Ines
Braund, Peter S.
Burgdorf, Christof
Claudi-Boehm, Simone
Cox, David
Dimitriou, Maria
Do, Ron
NATURE GENETICS, 2013, 45 (01) : 25 - U52
[6] Large-scale association analysis identifies new risk loci for coronary artery disease
Panos Deloukas
Stavroula Kanoni
Christina Willenborg
Martin Farrall
Themistocles L Assimes
John R Thompson
Erik Ingelsson
Danish Saleheen
Jeanette Erdmann
Benjamin A Goldstein
Kathleen Stirrups
Inke R König
Jean-Baptiste Cazier
Åsa Johansson
Alistair S Hall
Jong-Young Lee
Cristen J Willer
John C Chambers
Tõnu Esko
Lasse Folkersen
Anuj Goel
Elin Grundberg
Aki S Havulinna
Weang K Ho
Jemma C Hopewell
Niclas Eriksson
Marcus E Kleber
Kati Kristiansson
Per Lundmark
Leo-Pekka Lyytikäinen
Suzanne Rafelt
Dmitry Shungin
Rona J Strawbridge
Gudmar Thorleifsson
Emmi Tikkanen
Natalie Van Zuydam
Benjamin F Voight
Lindsay L Waite
Weihua Zhang
Andreas Ziegler
Devin Absher
David Altshuler
Anthony J Balmforth
Inês Barroso
Peter S Braund
Christof Burgdorf
Simone Claudi-Boehm
David Cox
Maria Dimitriou
Ron Do
Nature Genetics, 2013, 45 : 25 - 33
[7] Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer
Meilin Wang
Atsushi Takahashi
Fang Liu
Dingwei Ye
Qiang Ding
Chao Qin
Changjun Yin
Zhengdong Zhang
Koichi Matsuda
Michiaki Kubo
Rong Na
Xiaoling Lin
Haowen Jiang
Shancheng Ren
Jielin Sun
S. Lilly Zheng
Loic Le Marchand
William B. Isaacs
Zengnan Mo
Christopher A. Haiman
Yinghao Sun
Hidewaki Nakagawa
Jianfeng Xu
Nature Communications, 6
[8] Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer
Wang, Meilin
Takahashi, Atsushi
Liu, Fang
Ye, Dingwei
Ding, Qiang
Qin, Chao
Yin, Changjun
Zhang, Zhengdong
Matsuda, Koichi
Kubo, Michiaki
Na, Rong
Lin, Xiaoling
Jiang, Haowen
Ren, Shancheng
Sun, Jielin
Zheng, S. Lilly
Le Marchand, Loic
Isaacs, William B.
Mo, Zengnan
Haiman, Christopher A.
Sun, Yinghao
Nakagawa, Hidewaki
Xu, Jianfeng
NATURE COMMUNICATIONS, 2015, 6
[9] Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer
Lu, Yingchang
Kweon, Sun-Seog
Tanikawa, Chizu
Jia, Wei-Hua
Xiang, Yong-Bing
Cai, Qiuyin
Zeng, Chenjie
Schmit, Stephanie L.
Shin, Aesun
Matsuo, Keitaro
Jee, Sun Ha
Kim, Dong-Hyun
Kim, Jeongseon
Wen, Wanqing
Shi, Jiajun
Guo, Xingyi
Li, Bingshan
Wang, Nan
Zhang, Ben
Li, Xinxiang
Shin, Min-Ho
Li, Hong-Lan
Ren, Zefang
Oh, Jae Hwan
Oze, Isao
Ahn, Yoon-Ok
Jung, Keum Ji
Conti, David V.
Schumacher, Fredrick R.
Rennert, Gad
Jenkins, Mark A.
Campbell, Peter T.
Hoffmeister, Michael
Casey, Graham
Gruber, Stephen B.
Gao, Jing
Gao, Yu-Tang
Pan, Zhi-Zhong
Kamatani, Yoichiro
Zeng, Yi-Xin
Shu, Xiao-Ou
Long, Jirong
Matsuda, Koichi
Zheng, Wei
GASTROENTEROLOGY, 2019, 156 (05) : 1455 - 1466
[10] A Large-scale Genotyping Study Identifies Five Genes Associated With ARDS Development
Christiani, D. C.
Sheu, C.
Chen, F.
Su, L.
Bajwa, E.
Zhai, R.
Nuernberg, A. M.
Clardy, P. F.
Gallagher, D.
Gong, M.
Tejera, P.
Frank, A. J.
Hakonarson, H.
Lin, X.
Thompson, B. T.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2010, 181

← 1 2 3 4 5 →