DNA repair function scores for 2172 variants in the BRCA1 amino-terminus

In this study, we have re-assessed the data from this multiplexed assay using an improved analysis pipeline. These new analysis methods yield functional scores for more variants in the first 192 amino acids of BRCA1, plus we report new results for BRCA1 amino a cid residues 193–302. We now present the functional classification of 2172 BRCA1 variants in BRCA1 residues 2–302 using the multiplexed HDR assay. Comparison of the functional determinations of the missense variants with clinically known benign or pathogenic variants indicated 93% sensitivity an d 100% specificity for this assay. The results fromBRCA1 variants tested in this assay are a resource for clinical geneticists for evidence to evaluate VUS inBRCA1.
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research