Abstract
BACKGROUND\r\nIn this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers.\r\nMETHODS\r\nWe have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach.\r\nRESULTS\r\nWe found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95\% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95\% CI: 0.89-1.06, P = 0.5) mutation carriers.\r\nCONCLUSION\r\nThis SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.
Users
Please
log in to take part in the discussion (add own reviews or comments).