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

被引：843

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：

美国国家卫生研究院; 加拿大健康研究院;

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 61 条

[1] 8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC
Ahmadiyeh, Nasim
Pomerantz, Mark M.
Grisanzio, Chiara
Herman, Paula
Jia, Li
Almendro, Vanessa
He, Housheng Hansen
Brown, Myles
Liu, X. Shirley
Davis, Matt
Caswell, Jennifer L.
Beckwith, Christine A.
Hills, Adam
MacConaill, Laura
Coetzee, Gerhard A.
Regan, Meredith M.
Freedman, Matthew L.
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (21) : 9742 - 9746
[2] Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
Ahmed, Shahana
Thomas, Gilles
Ghoussaini, Maya
Healey, Catherine S.
Humphreys, Manjeet K.
Platte, Radka
Morrison, Jonathan
Maranian, Melanie
Pooley, Karen A.
Luben, Robert
Eccles, Diana
Evans, D. Gareth
Fletcher, Olivia
Johnson, Nichola
Silva, Isabel dos Santos
Peto, Julian
Stratton, Michael R.
Rahman, Nazneen
Jacobs, Kevin
Prentice, Ross
Anderson, Garnet L.
Rajkovic, Aleksandar
Curb, J. David
Ziegler, Regina G.
Berg, Christine D.
Buys, Saundra S.
McCarty, Catherine A.
Feigelson, Heather Spencer
Calle, Eugenia E.
Thun, Michael J.
Diver, W. Ryan
Bojesen, Stig
Nordestgaard, Borge G.
Flyger, Henrik
Doerk, Thilo
Schuermann, Peter
Hillemanns, Peter
Karstens, Johann H.
Bogdanova, Natalia V.
Antonenkova, Natalia N.
Zalutsky, Iosif V.
Bermisheva, Marina
Fedorova, Sardana
Khusnutdinova, Elza
Kang, Daehee
Yoo, Keun-Young
Noh, Dong Young
Ahn, Sei-Hyun
Devilee, Peter
van Asperen, Christi J.
[J]. NATURE GENETICS, 2009, 41 (05) : 585 - 590
[3] Polygenic inheritance of breast cancer: Implications for design of association studies
Antoniou, AC
Easton, DF
[J]. GENETIC EPIDEMIOLOGY, 2003, 25 (03) : 190 - 202
[4] A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
Antoniou, Antonis C.
Wang, Xianshu
Fredericksen, Zachary S.
McGuffog, Lesley
Tarrell, Robert
Sinilnikova, Olga M.
Healey, Sue
Morrison, Jonathan
Kartsonaki, Christiana
Lesnick, Timothy
Ghoussaini, Maya
Barrowdale, Daniel
Peock, Susan
Cook, Margaret
Oliver, Clare
Frost, Debra
Eccles, Diana
Evans, D. Gareth
Eeles, Ros
Izatt, Louise
Chu, Carol
Douglas, Fiona
Paterson, Joan
Stoppa-Lyonnet, Dominique
Houdayer, Claude
Mazoyer, Sylvie
Giraud, Sophie
Lasset, Christine
Remenieras, Audrey
Caron, Olivier
Hardouin, Agnes
Berthet, Pascaline
Hogervorst, Frans B. L.
Rookus, Matti A.
Jager, Agnes
van den Ouweland, Ans
Hoogerbrugge, Nicoline
van der Luijt, Rob B.
Meijers-Heijboer, Hanne
Garcia, Encarna B. Gomez
Devilee, Peter
Vreeswijk, Maaike P. G.
Lubinski, Jan
Jakubowska, Anna
Gronwald, Jacek
Huzarski, Tomasz
Byrski, Tomasz
Gorski, Bohdan
Cybulski, Cezary
Spurdle, Amanda B.
[J]. NATURE GENETICS, 2010, 42 (10) : 885 - +
[5] Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Bojesen, Stig E.
Pooley, Karen A.
Johnatty, Sharon E.
Beesley, Jonathan
Michailidou, Kyriaki
Tyrer, Jonathan P.
Edwards, Stacey L.
Pickett, Hilda A.
Shen, Howard C.
Smart, Chanel E.
Hillman, Kristine M.
Mai, Phuong L.
Lawrenson, Kate
Stutz, Michael D.
Lu, Yi
Karevan, Rod
Woods, Nicholas
Johnston, Rebecca L.
French, Juliet D.
Chen, Xiaoqing
Weischer, Maren
Nielsen, Sune F.
Maranian, Melanie J.
Ghoussaini, Maya
Ahmed, Shahana
Baynes, Caroline
Bolla, Manjeet K.
Wang, Qin
Dennis, Joe
McGuffog, Lesley
Barrowdale, Daniel
Lee, Andrew
Healey, Sue
Lush, Michael
Tessier, Daniel C.
Vincent, Daniel
Bacot, Francis
Vergote, Ignace
Lambrechts, Sandrina
Despierre, Evelyn
Risch, Harvey A.
Gonzalez-Neira, Anna
Rossing, Mary Anne
Pita, Guillermo
Doherty, Jennifer A.
Alvarez, Nuria
Larson, Melissa C.
Fridley, Brooke L.
Schoof, Nils
Chang-Claude, Jenny
[J]. NATURE GENETICS, 2013, 45 (04) : 371 - 384
[6] Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study
Burwinkel, Barbara
Shanmugam, Kalai S.
Hemminki, Kari
Meindl, Alfons
Schmutzler, Rita K.
Sutter, Christian
Wappenschmidt, Barbara
Kiechle, Marion
Bartram, Claus R.
Frank, Bernd
[J]. BMC CANCER, 2006, 6 (1)
[7] A novel, evolutionarily conserved gene family with putative sequence-specific single-stranded DNA-binding activity
Castro, P
Liang, H
Liang, JC
Nagarajan, L
[J]. GENOMICS, 2002, 80 (01) : 78 - 85
[8] Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
Couch, Fergus J.
Wang, Xianshu
McGuffog, Lesley
Lee, Andrew
Olswold, Curtis
Kuchenbaecker, Karoline B.
Soucy, Penny
Fredericksen, Zachary
Barrowdale, Daniel
Dennis, Joe
Gaudet, Mia M.
Dicks, Ed
Kosel, Matthew
Healey, Sue
Sinilnikova, Olga M.
Lee, Adam
Bacot, Francois
Vincent, Daniel
Hogervorst, Frans B. L.
Peock, Susan
Stoppa-Lyonnet, Dominique
Jakubowska, Anna
Radice, Paolo
Schmutzler, Rita Katharina
Domchek, Susan M.
Piedmonte, Marion
Singer, Christian F.
Friedman, Eitan
Thomassen, Mads
Hansen, Thomas V. O.
Neuhausen, Susan L.
Szabo, Csilla I.
Blanco, Ignacio
Greene, Mark H.
Karlan, Beth Y.
Garber, Judy
Phelan, Catherine M.
Weitzel, Jeffrey N.
Montagna, Marco
Olah, Edith
Andrulis, Irene L.
Godwin, Andrew K.
Yannoukakos, Drakoulis
Goldgar, David E.
Caldes, Trinidad
Nevanlinna, Heli
Osorio, Ana
Terry, Mary Beth
Daly, Mary B.
van Rensburg, Elizabeth J.
[J]. PLOS GENETICS, 2013, 9 (03):
[9] A common coding variant in CASP8 is associated with breast cancer risk
Cox, Angela
Dunning, Alison M.
Garcia-Closas, Montserrat
Balasubramanian, Sabapathy
Reed, Malcolm W. R.
Pooley, Karen A.
Scollen, Serena
Baynes, Caroline
Ponder, Bruce A. J.
Chanock, Stephen
Lissowska, Jolanta
Brinton, Louise
Peplonska, Beata
Southey, Melissa C.
Hopper, John L.
McCredie, Margaret R. E.
Giles, Graham G.
Fletcher, Olivia
Johnson, Nichola
dos Santos Silva, Isabel
Gibson, Lorna
Bojesen, Stig E.
Nordestgaard, Borge G.
Axelsson, Christen K.
Torres, Diana
Hamann, Ute
Justenhoven, Christina
Brauch, Hiltrud
Chang-Claude, Jenny
Kropp, Silke
Risch, Angela
Wang-Gohrke, Shan
Schuermann, Peter
Bogdanova, Natalia
Doerk, Thilo
Fagerholm, Rainer
Aaltonen, Kirsimari
Blomqvist, Carl
Nevanlinna, Heli
Seal, Sheila
Renwick, Anthony
Stratton, Michael R.
Rahman, Nazneen
Sangrajrang, Suleeporn
Hughes, David
Odefrey, Fabrice
Brennan, Paul
Spurdle, Amanda B.
Chenevix-Trench, Georgia
Beesley, Jonathan
[J]. NATURE GENETICS, 2007, 39 (03) : 352 - 358
[10] The ubiquitin receptor Rad23: At the crossroads of nucleotide excision repair and proteasomal degradation
Dantuma, Nico P.
Heinen, Christian
Hoogstraten, Deborah
[J]. DNA REPAIR, 2009, 8 (04) : 449 - 460

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