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

共 50 条

[31] Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer
Huo, Dezheng
Feng, Ye
Haddad, Stephen
Zheng, Yonglan
Yao, Song
Han, Yoo-Jeong
Ogundiran, Temidayo O.
Adebamowo, Clement
Ojengbede, Oladosu
Falusi, Adeyinka G.
Zheng, Wei
Blot, William
Cai, Qiuyin
Signorello, Lisa
John, Esther M.
Bernstein, Leslie
Hu, Jennifer J.
Ziegler, Regina G.
Nyante, Sarah
Bandera, Elisa V.
Ingles, Sue A.
Press, Michael F.
Deming, Sandra L.
Rodriguez-Gil, Jorge L.
Nathanson, Katherine L.
Domchek, Susan M.
Rebbeck, Timothy R.
Ruiz-Narvaez, Edward A.
Sucheston-Campbell, Lara E.
Bensen, Jeannette T.
Simon, Michael S.
Hennis, Anselm
Nemesure, Barbara
Leske, M. Cristina
Ambs, Stefan
Chen, Lin S.
Qian, Frank
Gamazon, Eric R.
Lunetta, Kathryn L.
Cox, Nancy J.
Chanock, Stephen J.
Kolonel, Laurence N.
Olshan, Andrew F.
Ambrosone, Christine B.
Olopade, Olufunmilayo I.
Palmer, Julie R.
Haiman, Christopher A.
HUMAN MOLECULAR GENETICS, 2016, 25 (21) : 4835 - 4846
[32] Androgen receptor expression predicts beneficial tamoxifen response in oestrogen receptor-α-negative breast cancer
Hilborn, Erik
Gacic, Jelena
Fornander, Tommy
Nordenskjold, Bo
Stal, Olle
Jansson, Agneta
BRITISH JOURNAL OF CANCER, 2016, 114 (03) : 248 - 255
[33] Androgen receptor expression predicts beneficial tamoxifen response in oestrogen receptor-α-negative breast cancer
Erik Hilborn
Jelena Gacic
Tommy Fornander
Bo Nordenskjöld
Olle Stål
Agneta Jansson
British Journal of Cancer, 2016, 114 : 248 - 255
[34] Oestrogen increases the activity of oestrogen receptor negative breast cancer stem cells through paracrine EGFR and Notch signalling
Hannah Harrison
Bruno M Simões
Lynsey Rogerson
Sacha J Howell
Göran Landberg
Robert B Clarke
Breast Cancer Research, 15
[35] Oestrogen increases the activity of oestrogen receptor negative breast cancer stem cells through paracrine EGFR and Notch signalling
Harrison, Hannah
Simoes, Bruno M.
Rogerson, Lynsey
Howell, Sacha J.
Landberg, Goeran
Clarke, Robert B.
BREAST CANCER RESEARCH, 2013, 15 (02):
[36] Prognostic significance of oestrogen receptor β in breast cancer
Speirs, V
Kerin, MJ
BRITISH JOURNAL OF SURGERY, 2000, 87 (04) : 405 - 409
[37] Oestrogen receptor mutants and variants in breast cancer
Dowsett, M
Daffada, A
Chan, CMW
Johnston, SRD
EUROPEAN JOURNAL OF CANCER, 1997, 33 (08) : 1177 - 1183
[38] Oestrogen receptor: A stable phenotype in breast cancer
Robertson, JFR
BRITISH JOURNAL OF CANCER, 1996, 73 (01) : 5 - 12
[39] Prognostic significance of oestrogen receptor β in breast cancer
Palmieri, C
BRITISH JOURNAL OF SURGERY, 2000, 87 (09) : 1248 - 1249
[40] Identification of a novel biomarker of IKKα-dependent NF-κB signalling in oestrogen receptor (ER)-positive breast cancer
Cheng, Kelvin K. W.
Bennett, Lindsay
Edwards, Joanne
SCOTTISH MEDICAL JOURNAL, 2016, 61 (04) : NP55 - NP55

← 1 2 3 4 5 →