Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

被引：77

作者：

Couch, Fergus J. ^{[1
,2
]}

Kuchenbaecker, Karoline B. ^{[3
]}

Michailidou, Kyriaki ^{[3
]}

Mendoza-Fandino, Gustavo A. ^{[4
]}

Nord, Silje ^{[5
]}

Lilyquist, Janna ^{[2
]}

Olswold, Curtis ^{[2
]}

Hallberg, Emily ^{[2
]}

Agata, Simona ^{[6
]}

Ahsan, Habibul ^{[7
,8
,9
]}

Aittomaeki, Kristiina ^{[10
]}

Ambrosone, Christine ^{[11
]}

Andrulis, Irene L. ^{[12
,13
,14
]}

Anton-Culver, Hoda ^{[15
]}

Arndt, Volker ^{[16
]}

Arun, Banu K. ^{[17
]}

Arver, Brita ^{[18
]}

Barile, Monica ^{[19
]}

Barkardottir, Rosa B. ^{[20
,21
]}

Barrowdale, Daniel ^{[3
]}

Beckmann, Lars ^{[22
]}

Beckmann, Matthias W. ^{[23
]}

Benitez, Javier ^{[24
,25
,26
]}

Blank, Stephanie V. ^{[27
]}

Blomqvist, Carl ^{[28
,29
]}

Bogdanova, Natalia V. ^{[30
]}

Bojesen, Stig E. ^{[31
]}

Bolla, Manjeet K. ^{[3
]}

Bonanni, Bernardo ^{[19
]}

Brauch, Hiltrud ^{[32
,33
]}

Brenner, Hermann ^{[16
,34
,35
]}

Burwinkel, Barbara ^{[36
]}

Buys, Saundra S. ^{[37
]}

Caldes, Trinidad ^{[38
]}

Caligo, Maria A. ^{[39
,40
]}

Canzian, Federico ^{[41
]}

Carpenter, Jane ^{[42
]}

Chang-Claude, Jenny ^{[43
]}

Chanock, Stephen J. ^{[44
]}

Chung, Wendy K. ^{[45
,46
]}

Claes, Kathleen B. M. ^{[47
]}

Cox, Angela ^{[48
]}

Cross, Simon S. ^{[49
]}

Cunningham, Julie M. ^{[1
]}

Czene, Kamila ^{[50
]}

Daly, Mary B. ^{[51
]}

Damiola, Francesca ^{[52
]}

Darabi, Hatef ^{[50
]}

de la Hoya, Miguel ^{[38
]}

Devilee, Peter ^{[53
]}

机构：

[1] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA

[2] Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA

[3] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England

[4] Univ S Florida, Coll Med, H Lee Moffitt Canc Ctr & Res Inst, Canc Epidemiol Program, Tampa, FL 33612 USA

[5] Radiumhosp, Oslo Univ Hosp, Inst Canc Res, Dept Genet, N-0310 Oslo, Norway

[6] IRCCS, IOV, Immunol & Mol Oncol Unit, I-20133 Padua, Italy

[7] Univ Chicago, Dept Hlth Studies, Chicago, IL 60637 USA

[8] Univ Chicago, Ctr Comprehens Canc, Chicago, IL 60637 USA

[9] Univ Chicago, Dept Med & Human Genet, Chicago, IL 60637 USA

[10] Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki 00029, Finland

[11] Roswell Pk Canc Inst, Dept Canc Prevent & Control, Buffalo, NY 14263 USA

[12] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada

[13] Univ Toronto, Dept Mol Genet, Toronto, ON M5B 1W8, Canada

[14] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5B 1W8, Canada

[15] Univ Calif Irvine, Dept Epidemiol, Irvine, CA 92697 USA

[16] German Canc Res Ctr, Div Clin Epidemiol & Aging Res, D-69120 Heidelberg, Germany

[17] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA

[18] Karolinska Univ Hosp, Dept Oncol, SE-17176 Stockholm, Sweden

[19] Ist Europeo Oncol, Div Canc Prevent & Genet, I-20141 Milan, Italy

[20] Landspitali Univ Hosp, Dept Pathol, IS-101 Reykjavik, Iceland

[21] Univ Iceland, Sch Med, IS-101 Reykjavik, Iceland

[22] Inst Qual & Efficiency Hlth Care IQWiG, D-50670 Cologne, Germany

[23] Univ Erlangen Nurnberg, Comprehens Canc Ctr Erlangen EMN, Univ Breast Ctr Franconia, Dept Gynecol & Obstet,Univ Hosp Erlangen, D-91054 Erlangen, Germany

[24] Spanish Natl Canc Ctr CNIO, Human Genet Grp, Human Canc Genet Program, Madrid 28029, Spain

[25] Spanish Natl Canc Ctr CNIO, Human Canc Genet Program, Genotyping Unit CeGen, Madrid 28029, Spain

[26] Biomed Network Rare Dis CIBERER, Madrid 28029, Spain

[27] NYU, Sch Med, NYU Womens Canc Program, New York, NY 10016 USA

[28] Univ Helsinki, Dept Oncol, FI-00029 Helsinki, Finland

[29] Univ Helsinki, Cent Hosp, FI-00029 Helsinki, Finland

[30] Hannover Med Sch, Dept Radiat Oncol, D-30625 Hannover, Germany

[31] Copenhagen Univ Hosp, Herlev Hosp, Copenhagen Gen Populat Study, DK-2730 Herlev, Denmark

[32] Dr Margarete Fischer Bosch Inst Clin Pharmacol, D-70376 Stuttgart, Germany

[33] Univ Tubingen, D-72074 Tubingen, Germany

[34] German Canc Res Ctr, Div Prevent Oncol, D-69120 Heidelberg, Germany

[35] Natl Ctr Tumor Dis NCT, D-69120 Heidelberg, Germany

[36] Heidelberg Univ, Dept Obstet & Gynecol, D-69120 Heidelberg, Germany

[37] Univ Utah, Sch Med, Dept Med, Huntsman Canc Inst, Salt Lake City, UT 84112 USA

[38] IdISSC, Hosp Clin San Carlos, Mol Oncol Lab, Madrid 28040, Spain

[39] Univ Pisa, Dept Lab Med, Sect Genet Oncol, I-56126 Pisa, Italy

[40] Univ Hosp Pisa, I-56126 Pisa, Italy

[41] German Canc Res Ctr, Genom Epidemiol Grp, D-69120 Heidelberg, Germany

[42] Univ Sydney, Westmead Millennium Inst, Australian Breast Canc Tissue Bank, Sydney, NSW 2145, Australia

[43] German Canc Res Ctr, Div Canc Epidemiol, D-69120 Heidelberg, Germany

[44] NCI, Div Canc Epidemiol & Genet, Rockville, MD 20850 USA

[45] Columbia Univ, Dept Pediat, New York, NY 10032 USA

[46] Columbia Univ, Dept Med, New York, NY 10032 USA

[47] Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium

[48] Univ Sheffield, Dept Oncol, Sheffield Canc Res Ctr, Sheffield S10 2RX, S Yorkshire, England

[49] Univ Sheffield, Acad Unit Pathol, Dept Neurosci, Sheffield S10 2HQ, S Yorkshire, England

[50] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden

来源：

NATURE COMMUNICATIONS | 2016年 / 7卷

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; BRCA2 MUTATION CARRIERS; GENE-EXPRESSION; COMMON VARIANTS; TELOMERE LENGTH; RISK; IDENTIFY; INVESTIGATORS; METAANALYSIS; CONSORTIUM;

D O I：

10.1038/ncomms11375

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.

引用

页数：13

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