Genome-wide association study identifies five new breast cancer susceptibility loci

被引：557

作者：

Turnbull, Clare ^{[2
]}

Ahmed, Shahana ^{[1
]}

Morrison, Jonathan ^{[3
]}

Pernet, David ^{[2
]}

Renwick, Anthony ^{[2
]}

Maranian, Mel ^{[1
]}

Seal, Sheila ^{[2
]}

Ghoussaini, Maya ^{[1
]}

Hines, Sarah ^{[2
]}

Healey, Catherine S. ^{[1
]}

Hughes, Deborah ^{[2
]}

Warren-Perry, Margaret ^{[2
]}

Tapper, William ^{[4
]}

Eccles, Diana ^{[4
]}

Evans, D. Gareth ^{[5
]}

Hooning, Maartje ^{[6
]}

Schutte, Mieke ^{[6
]}

van den Ouweland, Ans ^{[7
]}

Houlston, Richard ^{[2
]}

Ross, Gillian ^{[8
]}

Langford, Cordelia ^{[9
]}

Pharoah, Paul D. P. ^{[1
,3
]}

Stratton, Michael R. ^{[2
,9
]}

Dunning, Alison M. ^{[1
]}

Rahman, Nazneen ^{[2
]}

Easton, Douglas F. ^{[1
,3
]}

机构：

[1] Univ Cambridge, Strangeways Res Lab, Dept Oncol, Cambridge, England

[2] Inst Canc Res, Sect Canc Genet, Sutton, Surrey, England

[3] Univ Cambridge, Dept Publ Hlth & Primary Care, Strangeways Res Lab, Cambridge, England

[4] Univ Southampton, Southampton Gen Hosp, Acad Unit Genet Med, Southampton, Hants, England

[5] St Marys Hosp, Dept Med Genet, Manchester M13 0JH, Lancs, England

[6] Erasmus Univ, Med Ctr, Dept Med Oncol, Rotterdam, Netherlands

[7] Erasmus Univ, Dept Clin Genet, Med Ctr, NL-3000 DR Rotterdam, Netherlands

[8] Royal Marsden Natl Hlth Serv Fdn Trust, Breast Canc Unit, London, England

[9] Wellcome Trust Sanger Inst, Hinxton, England

来源：

NATURE GENETICS | 2010年 / 42卷 / 06期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

COMMON VARIANTS; CONFER SUSCEPTIBILITY; RISK; ALLELES; GLIOMA; 9P21;

D O I：

10.1038/ng.586

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 in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 x 10(-7) to P = 3.2 x 10(-15)). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 x 10(-6)), 8q24 (rs1562430, P = 5.8 x 10(-7)) and LSP1 (rs909116, P = 7.3 x 10(-7)) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease.

引用

页码：504 / U47

页数：6

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Mitchell, Jonathan S. ;

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Weinhold, Niels ;

Foersti, Asta ;

Ali, Mina ;

van Duin, Mark ;

Thorleifsson, Gudmar ;

Johnson, David C. ;

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Gudbjartsson, Daniel F. ;

Kuiper, Rowan ;

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Campo, Chiara ;

Einsele, Hermann ;

Gregory, Walter A. ;

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Hillengass, Jens ;

Hoffmann, Per ;

Jackson, Graham H. ;

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Joud, Magnus ;

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Migliorini, Gabriele ;

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Vogel, Ulla ;

Waage, Anders ;

Walker, Brian A. ;

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Ek, Weronica E. ;

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Onstad, Lynn ;

Sather, Cassandra ;

Lao-Sirieix, Pierre ;

Gammon, Marilie D. ;

Corley, Douglas A. ;

Shaheen, Nicholas J. ;

Bird, Nigel C. ;

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Murray, Liam J. ;

Reid, Brian J. ;

Chow, Wong-Ho ;

Risch, Harvey A. ;

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Wu, Anna H. ;

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Chanock, Stephen J. ;

Harrington, Patricia ;

Caldas, Isabel ;

Debiram-Beecham, Irene ;

Caldas, Carlos ;

Hayward, Nicholas K. ;

Pharoah, Paul D. ;

Fitzgerald, Rebecca C. ;

MacGregor, Stuart ;

Whiteman, David C. ;

Vaughan, Thomas L. .

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Hirota, Tomomitsu ;

Takahashi, Atsushi ;

Kubo, Michiaki ;

Tsunoda, Tatsuhiko ;

Tomita, Kaori ;

Doi, Satoru ;

Fujita, Kimie ;

Miyatake, Akihiko ;

Enomoto, Tadao ;

Miyagawa, Takehiko ;

Adachi, Mitsuru ;

Tanaka, Hiroshi ;

Niimi, Akio ;

Matsumoto, Hisako ;

Ito, Isao ;

Masuko, Hironori ;

Sakamoto, Tohru ;

Hizawa, Nobuyuki ;

Taniguchi, Masami ;

Lima, John J. ;

Irvin, Charles G. ;

Peters, Stephen P. ;

Himes, Blanca E. ;

Litonjua, Augusto A. ;

Tantisira, Kelan G. ;

Weiss, Scott T. ;

Kamatani, Naoyuki ;

Nakamura, Yusuke ;

Tamari, Mayumi .

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McGovern, Dermot P. B. ;

Gardet, Agnes ;

Torkvist, Leif ;

Goyette, Philippe ;

Essers, Jonah ;

Taylor, Kent D. ;

Neale, Benjamin M. ;

Ong, Rick T. H. ;

Lagace, Caroline ;

Li, Chun ;

Green, Todd ;

Stevens, Christine R. ;

Beauchamp, Claudine ;

Fleshner, Phillip R. ;

Carlson, Marie ;

D'Amato, Mauro ;

Halfvarson, Jonas ;

Hibberd, Martin L. ;

Lordal, Mikael ;

Padyukov, Leonid ;

Andriulli, Angelo ;

Colombo, Elisabetta ;

Latiano, Anna ;

Palmieri, Orazio ;

Bernard, Edmond-Jean ;

Deslandres, Colette ;

Hommes, Daan W. ;

de Jong, Dirk J. ;

Stokkers, Pieter C. ;

Weersma, Rinse K. ;

Sharma, Yashoda ;

Silverberg, Mark S. ;

Cho, Judy H. ;

Wu, Jing ;

Roeder, Kathryn ;

Brant, Steven R. ;

Schumm, L. Phillip ;

Duerr, Richard H. ;

Dubinsky, Marla C. ;

Glazer, Nicole L. ;

Haritunians, Talin ;

Ippoliti, Andy ;

Melmed, Gil Y. ;

Siscovick, David S. ;

Vasiliauskas, Eric A. ;

Targan, Stephan R. ;

Annese, Vito ;

Wijmenga, Cisca ;

Pettersson, Sven ;

Rotter, Jerome I. .

NATURE GENETICS, 2010, 42 (04) :332-U88

[30] Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers [J].

Zheng, Yonglan ;

Ogundiran, Temidayo O. ;

Falusi, Adeyinka G. ;

Nathanson, Katherine L. ;

John, Esther M. ;

Hennis, Anselm J. M. ;

Ambs, Stefan ;

Domchek, Susan M. ;

Rebbeck, Timothy R. ;

Simon, Michael S. ;

Nemesure, Barbara ;

Wu, Suh-Yuh ;

Leske, Maria Cristina ;

Odetunde, Abayomi ;

Niu, Qun ;

Zhang, Jing ;

Afolabi, Chibuzor ;

Gamazon, Eric R. ;

Cox, Nancy J. ;

Olopade, Christopher O. ;

Olopade, Olufunmilayo I. ;

Huo, Dezheng .

CARCINOGENESIS, 2013, 34 (07) :1520-1528

← 1 2 3 4 5 →