Resolving the Functional Significance of BRCA1 RING Domain Missense Substitutions
Andrew Paquette, Kayoko Tao, Kathleen A Clark, Alex W Stark, Judith Rosenthal, Angela K Snow, Russell Bell, Bryony A. Thompson, Joshua Unger, Brett A Milash, Lisa Pappas, Jason Gertz, Katherine Elena Varley, Alun Thomas, Ken Boucher, , Sean V Tavtigian
The paper develops and validates a mammalian 2-hybrid assay to classify BRCA1 RING domain missense substitutions, finding 20% are pathogenic and classifying 89% of observed variants.
bioRxiv · Apr 27, 2021 · PreprintGenetics