biostudies-literatureOliverio AItalian Ministry of HealthItalian Cancer Research Association (AIRC)E3584https://www.ebi.ac.uk/biostudies/studies/S-EPMC7761428biostudies-literatureUnknown12(12)Women carriers of pathogenic variants (mutations) in the <i>BRCA1/2</i> 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 <i>BRCA1/2</i> variants and the risk effect of metabolic exposures in relation to the position of the mutations within the <i>BRCA1/2</i>. Overall, 438 women carriers of <i>BRCA1/2</i> 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 anCancersBRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.PMC7761428IG-2015-17151GR-2010-2310116Magno SBruno EParadiso ATommasi SOliverio AGuarino DRadice PManoukian SPeissel BPasanisi PTerribile DAColombo MDaniele AfalseBRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.Women carriers of pathogenic variants (mutations) in the <i>BRCA1/2</i> 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 <i>BRCA1/2</i> variants and the risk effect of metabolic exposures in relation to the position of the mutations within the <i>BRCA1/2</i>. Overall, 438 women carriers of <i>BRCA1/2</i> 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 an2020-01-01T00:00:00Z2020 Nov2026-05-03T22:12:12.094Z2021-02-20T16:47:35ZS-EPMC77614283326615510.3390/cancers12123584