Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is associated with germline mutations in mismatch repair (MMR) genes. Inherited missense mutations, however, complicate the diagnostics because they do not always cause unambiguous predisposition to cancer. This leads to variable and contradictory interpretations of their pathogenicity. Here, we establish… (More)
DOI: 10.1002/ijc.23573

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