Analyzing BRCA1 Variants of Unknown Significance by Bioinformatics

Abstract

BRCA1 and BRCA2 are the two major genes responsible for predisposition to breast and ovarian cancers. Mutations in BRCA1 gene have a greater risk of developing cancer compared to BRCA2 gene. Many missense variants have been reported for BRCA1 gene, of which only 2% variants are found to have clinical significance. Most of the missense variants are called uncertain/unknown variants for which the clinical significance is not known. The harmfulness of these Variants of unknown significance (VUS) was studied by a bioinformatics approach.