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Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome

22 Apr 2022

Abstract excerpt

The large majority of germline alterations identified in the DNA mismatch repair (MMR) gene PMS2, a low-penetrance gene for the cancer predisposition Lynch syndrome, represent variants of uncertain significance (VUS). The inability to classify most VUS interferes with personalized healthcare. The complete in vitro MMR activity (CIMRA) assay, that only requires sequence information on the VUS, provides a...

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PMID: 35451539
DOI: 10.1002/humu.24387

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