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- Title
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
- Authors
Haiman, Christopher A; Chen, Gary K; Vachon, Celine M; Canzian, Federico; Dunning, Alison; Millikan, Robert C; Wang, Xianshu; Ademuyiwa, Foluso; Ahmed, Shahana; Ambrosone, Christine B; Baglietto, Laura; Balleine, Rosemary; Bandera, Elisa V; Beckmann, Matthias W; Berg, Christine D; Bernstein, Leslie; Blomqvist, Carl; Blot, William J; Brauch, Hiltrud; Buring, Julie E
- 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.
- Subjects
AFRICA; ESTROGEN receptors; PROGESTERONE receptors; BREAST cancer; HUMAN genome; LOCUS (Genetics); GENE frequency
- Publication
Nature Genetics, 2011, Vol 43, Issue 12, p1210
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.985