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
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