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

作者：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; Carey Lisa A; Carpenter Jane E; Chang Claude Jenny; Chanock Stephen J; Chasman Daniel I; Clarke Christine L

来源：Nature Genetics, 2011, 43(12): 1210-U61.

DOI：10.1038/ng.985

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 x 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 x 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 x 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.

• 出版日期2011-12
• 单位河北医科大学