Article
Estimating risks for variants of unknown significance according to their predicted pathogenicity classes with application to BRCA1.
Breast cancer research and treatment - 1 Feb 2014
Dowty J G, Lee E, McKean-Cowdin R, Henderson B E, Bernstein L, Ursin G, Hopper J L
Abstract excerpt
Sequence-based testing of disease-susceptibility genes has identified many variants of unknown significance (VUSs) whose pathogenicity is unknown at the time of their measurement. Female breast cancer cases aged 20-49 years at diagnosis and who have VUSs in BRCA1 and no mutations in BRCA2 have previously been identified through the population-based Los Angeles County Cancer Surveillance Program. These nominal...
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