DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Breast cancer. The EFO term breast carcinoma was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: breast carcinoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

CA Haiman, GK Chen, CM Vachon, F Canzian, A Dunning, RC Millikan, X Wang, F Ademuyiwa, S Ahmed, CB Ambrosone, L Baglietto, R Balleine, EV Bandera, MW Beckmann, CD Berg, L Bernstein, C Blomqvist, WJ Blot, H Brauch, JE Buring, LA Carey, JE Carpenter, J Chang-Claude, SJ Chanock, DI Chasman, CL Clarke, A Cox, SS Cross, SL Deming, RB Diasio, AM Dimopoulos, WR Driver, T Dünnebier, L Durcan, D Eccles, CK Edlund, AB Ekici, PA Fasching, HS Feigelson, D Flesch-Janys, F Fostira, A Försti, G Fountzilas, SM Gerty, GG Giles, AK Godwin, P Goodfellow, N Graham, D Greco, U Hamann, SE Hankinson, A Hartmann, R Hein, J Heinz, A Holbrook, RN Hoover, JJ Hu, DJ Hunter, SA Ingles, A Irwanto, J Ivanovich, EM John, N Johnson, A Jukkola-Vuorinen, R Kaaks, YD Ko, LN Kolonel, I Konstantopoulou, VM Kosma, S Kulkarni, D Lambrechts, AM Lee, LL Marchand, T Lesnick, J Liu, S Lindstrom, A Mannermaa, S Margolin, NG Martin, P Miron, GW Montgomery, H Nevanlinna, S Nickels, S Nyante, C Olswold, J Palmer, H Pathak, D Pectasides, CM Perou, J Peto, PD Pharoah, LC Pooler, MF Press, K Pylkäs, TR Rebbeck, JL Rodriguez-Gil, L Rosenberg, E Ross, T Rüdiger, Idos S Silva, E Sawyer, MK Schmidt, R Schulz-Wendtland, F Schumacher, G Severi, X Sheng, LB Signorello, HP Sinn, KN Stevens, MC Southey, WJ Tapper, I Tomlinson, FB Hogervorst, E Wauters, J Weaver, H Wildiers, R Winqvist, D Van Den Berg, P Wan, LY Xia, D Yannoukakos, W Zheng, RG Ziegler, A Siddiq, SL Slager, DO Stram, D Easton, P Kraft, BE Henderson, FJ Couch

TITLE:

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

JOURNAL:

Nature genetics Oct 2011, Vol 43, pp. 1210-4

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. PUBMED: 22037553
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