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Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer

1 Jul 2019

Abstract excerpt

Background: Lynch syndrome is associated with genetic variants in mismatch repair ( MMR ) genes. Pathogenic variants in the MLH1 and MSH2 genes occur in most families in which the phenotype is highly penetrant. These testing criteria are likely to miss individuals with Lynch syndrome due to the less penetrant MMR genes, such as MSH6, MLH3, MSH3, and PMS2 . So far, several mutations in the PMS2 gene have been...

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PMID: 31410062
DOI: 10.2147/cmar.s167348

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