Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C > T).

CONCLUSION: The VHL p.P81S mutation is most likely a low-penetrant pathogenic variant predisposing to RCC development. We suggest the above-mentioned method for VUS evaluation with use of different methods, especially a variety of in silico methods and tumor tissue analysis. PMID: 28503092 [PubMed - in process]
Source: Current Genomics - Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research