Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.

ABSTRACT: Germline mutations in the BRCA1 gene have been reported to increase the lifetime risk of developing breast and/or ovarian cancer (BOC). By new sequencing technologies, numerous variants of uncertain significance (VUS) are identified. It is mandatory to develop new tools to evaluate their functional impact and pathogenicity. As the expression of pathogenic BRCA1 variants in Saccharomyces cerevisiae increases the frequency of intra- and inter-chromosomal homologous recombination (HR), and gene reversion (GR), we validated the two HR and the GR assays by testing 23 benign and 23 pathogenic variants and compared the results with those that were obtained in the small colony phenotype (SCP) assay, an additional yeast-based assay, that was validated previously. We demonstrated that they sc

SUBMITTER: Belle F 

PROVIDER: S-EPMC8999655 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature