Pathogenic PMS2 variants present reduced penetrance for Lynch syndrome cancers compared to other mismatch repair genes

2025-02-05 genetic and genomic medicine Title + abstract only

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PurposeScreening for Lynch syndrome in the general population aims to prevent and detect cancers early. However, current clinical guidelines for those with pathogenic variants are largely based on studies of patients with cancer or strong family history. The objective of this study was to determine the risk of cancer associated with pathogenic variants in MLH1, MSH2, MSH6, or PMS2 in the general population. MethodsThis retrospective case-control study utilizes Helix Research NetworkTM data from...

Pathogenic PMS2 variants present reduced penetrance for Lynch syndrome cancers compared to other mismatch repair genes

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