BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.

ABSTRACT: Women carriers of pathogenic variants (mutations) in the BRCA1/2 genes face a high lifetime risk of developing breast cancer (BC) and/or ovarian cancer (OC). However, metabolic factors may influence BRCA penetrance. We studied the association of metabolic factors with BRCA1/2 variants and the risk effect of metabolic exposures in relation to the position of the mutations within the BRCA1/2. Overall, 438 women carriers of BRCA1/2 mutations, aged 18-70, with or without a previous diagnosis of BC/OC and without metastases, who joined our randomized dietary trial, were included in the study. The pathogenic variants were divided, according to their predicted effect, into loss of function (LOF) and nonsynonymous variants. The association between metabolic exposures an

SUBMITTER: Oliverio A 

PROVIDER: S-EPMC7761428 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature