Abstract
Multiplexed assays reveal effects of missense variants in MSH2 and cancer predisposition.
Highlights
Jia and colleagues score the function of 94.4% of all possible MSH2 variants, with the goal of identifying missense variants that cause LoF [11]
We have previously studied wild-type MSH2 and 24 missense variants including both pathogenic and benign variants as well as variants with unknown pathogenicity [18]
Our results showed that most of the pathogenic variants were found at low steady-state protein levels because they were rapidly degraded by the proteasome
Summary
Most current functional assays are challenging to scale to the almost 18,000 possible single amino acid substitutions in MSH2, making it difficult to assign pathogenicity to any new clinically discovered variant. Jia and colleagues score the function of 94.4% of all possible MSH2 variants, with the goal of identifying missense variants that cause LoF [11].
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