Article
Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool.
Journal of genetic counseling - 1 Dec 2016
Garrett Lauren T, Hickman Nathan, Jacobson Angela, Bennett Robin L, Amendola Laura M, Rosenthal Elisabeth A, Shirts Brian H
Abstract excerpt
Multi-gene cancer panels often identify variants of uncertain clinical significance (VUS) that pose a challenge to health care providers in managing a patient's cancer risk. Family segregation analysis can yield powerful data to re-classify a VUS (as either benign or pathogenic). However, financial and personnel resources to coordinate these studies are limited. In an informal assessment we found that family...
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