Functional Categorization of <i>BRCA1</i> Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays

Abstract

We have functionally categorized 238 <i>BRCA1</i> VUS using three different HRR-related assays. Classification based on clinical and genetic data alone for a subset of these variants confirmed the high sensitivity and specificity of our functional assays.