Article
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2021
Lyra Paulo C M, Nepomuceno Thales C, de Souza Marcele L M, Machado Géssica F, Veloso Mariana F, Henriques Taciane B, Dos Santos Diandra Z, Ribeiro Iuly G, Ribeiro Roberto S, Rangel Leticia B A, Richardson Marcy, Iversen Edwin S, Goldgar David, Couch Fergus J, Carvalho Marcelo A, Monteiro Alvaro N A
Abstract excerpt
PURPOSE: BRCA1 pathogenic variant heterozygotes are at a substantially increased risk for breast and ovarian cancer. The widespread uptake of testing has led to a significant increase in the detection of missense variants in BRCA1, the vast majority of which are variants of uncertain clinical significance (VUS), posing a challenge to genetic counseling. Here, we harness a wealth of functional data for thousands...
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