DNA Repair Function Scores for 2172 Variants in the BRCA1 Amino-Terminus
M. Diabate, M. M. Islam, G. Nagy, T. Banerjee, S. Dhar, N. Smith, A. I. Adamovich, L. M. Starita, J. D. Parvin
The paper presents functional scores for 2172 BRCA1 variants using a multiplexed HDR assay, showing 93% sensitivity and 100% specificity in classifying pathogenic and benign variants.
bioRxiv · Apr 10, 2023Cancer Biology