Article
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2020
Li Hongyan, LaDuca Holly, Pesaran Tina, Chao Elizabeth C, Dolinsky Jill S, Parsons Michael, Spurdle Amanda B, Polley Eric C, Shimelis Hermela, Hart Steven N, Hu Chunling, Couch Fergus J, Goldgar David E
Abstract excerpt
PURPOSE: Genetic testing of individuals often results in identification of genomic variants of unknown significance (VUS). Multiple lines of evidence are used to help determine the clinical significance of these variants. METHODS: We analyzed ~138,000 individuals tested by multigene panel testing (MGPT). We used logistic regression to predict carrier status based on personal and family history of cancer. This was...
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