Article

Functional assay-based classification of PMS2 variants in Lynch Syndrome

2021-11-24

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 (LS, OMIM 120435), represent variants of unknown significance (VUS). The inability to assess pathogenicity of such VUS interferes with personalized healthcare. The complete in vitro MMR activity (CIMRA) assay, that only requires sequence information on...

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Literature Corpus work: 6bba778d-9df2-5797-9976-1c6dd063796a
DOI: 10.22541/au.163772741.15317643/v1

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