A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

Abstract

Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 × 10−10). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 × 10−9), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 × 10−9). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.

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Item Type:	Article
Authors/Creators:	Haiman, CA Chen, GK Vachon, CM Canzian, F Dunning, A Millikan, RC Wang, X Ademuyiwa, F Ahmed, S Ambrosone, CB Baglietto, L Balleine, R Bandera, EV Beckmann, MW Berg, CD Bernstein, L Blomqvist, C Blot, WJ Brauch, H Buring, JE Carey, LA Carpenter, JE Chang-Claude, J Chanock, SJ Chasman, DI Clarke, CL Cox, A https://orcid.org/0000-0002-5138-1099 Cross, SS https://orcid.org/0000-0003-2044-1754 Deming, SL Diasio, RB Dimopoulos, AM Driver, WR Duennebier, T Durcan, L Eccles, D Edlund, CK Ekici, AB Fasching, PA Feigelson, HS Flesch-Janys, D Fostira, F Foersti, A Fountzilas, G Gerty, SM Giles, GG Godwin, AK Goodfellow, P Graham, N Greco, D Hamann, U Hankinson, SE Hartmann, A Hein, R Heinz, J Holbrook, A Hoover, RN Hu, JJ Hunter, DJ Ingles, SA Irwanto, A Ivanovich, J John, EM Johnson, N Jukkola-Vuorinen, A Kaaks, R Ko, Y-D Kolonel, LN Konstantopoulou, I Kosma, V-M Kulkarni, S Lambrechts, D Lee, AM Le Marchand, L Lesnick, T Liu, J Lindstrom, S Mannermaa, A Margolin, S Martin, NG Miron, P Montgomery, GW Nevanlinna, H Nickels, S Nyante, S Olswold, C Palmer, J Pathak, H Pectasides, D Perou, CM Peto, J Pharoah, PDP Pooler, LC Press, MF Pylkas, K Rebbeck, TR Rodriguez-Gil, JL Rosenberg, L Ross, E Ruediger, T Silva, IDS Sawyer, E Schmidt, MK Schulz-Wendtland, R Schumacher, F Severi, G Sheng, X Signorello, LB Sinn, H-P Stevens, KN Southey, MC Tapper, WJ Tomlinson, I Hogervorst, FBL Wauters, E Weaver, J Wildiers, H Winqvist, R Van Den Berg, D Wan, P Xia, LY Yannoukakos, D Zheng, W Ziegler, RG Siddiq, A Slager, SL Stram, DO Easton, D Kraft, P Henderson, BE Couch, FJ Gene, EIBC
Copyright, Publisher and Additional Information:	© 2011 Nature America, Inc. This is an author-produced version of a paper subsequently published in Nature Genetics. Uploaded in accordance with the publisher's self-archiving policy.
Dates:	Published: December 2011 Published (online): 30 October 2011 Accepted: 28 September 2011
Institution:	The University of Sheffield
Academic Units:	The University of Sheffield > Sheffield Teaching Hospitals
Depositing User:	Symplectic Sheffield
Date Deposited:	12 Nov 2019 16:09
Last Modified:	13 Nov 2019 00:36
Status:	Published
Publisher:	Nature Research
Refereed:	Yes
Identification Number:	10.1038/ng.985
Related URLs:	Author
Open Archives Initiative ID (OAI ID):	oai:eprints.whiterose.ac.uk:152414

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A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

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