Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

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 signif...

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發表在:Genet Med
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: Nature Publishing Group US 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7862071/
https://ncbi.nlm.nih.gov/pubmed/33087888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-00991-0
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