Functional characterization of BRCA1 variants of unknown significance using homologous recombination repair assays.

ABSTRACT: Inherited mutations in BRCA1 are among the primary causes of hereditary breast and ovarian cancer (HBOC). Genetic testing has identified numerous pathogenic and benign mutations in BRCA1, but also thousands of variants of uncertain significance (VUS) with unclear functional consequences. Accurate cancer risk prediction for carriers of these VUS requires functional assays to assess their pathogenicity. In this study, we analyzed 16 BRCA1 VUS detected at the Hereditary Cancer Genetic Counseling Laboratory in Salamanca, Spain, with the goal of providing additional data to guide their reclassification. Since homologous recombination (HR) is the primary tumor-suppressive function of BRCA1, we employed two complementary HR repair assays to evaluate HR efficiency. The first, an already establishe

SUBMITTER: Martin-Bejarano P 

PROVIDER: S-EPMC12505751 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature