Analysis and Interpretation of the Impact of Missense Variants in Cancer.

ABSTRACT: Large scale genome sequencing allowed the identification of a massive number of genetic variations, whose impact on human health is still unknown. In this review we analyze, by an in silico-based strategy, the impact of missense variants on cancer-related genes, whose effect on protein stability and function was experimentally determined. We collected a set of 164 variants from 11 proteins to analyze the impact of missense mutations at structural and functional levels, and to assess the performance of state-of-the-art methods (FoldX and Meta-SNP) for predicting protein stability change and pathogenicity. The result of our analysis shows that a combination of experimental data on protein stability and in silico pathogenicity predictions allowed the identification of a subset of variants wit

SUBMITTER: Petrosino M 

PROVIDER: S-EPMC8196604 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature