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Article

Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

Human mutation - 1 Nov 2013

Drost Mark, Koppejan Hester, de Wind Niels

Abstract excerpt

Lynch syndrome (LS) is a common cancer predisposition caused by an inactivating mutation in one of four DNA mismatch repair (MMR) genes. Frequently a variant of uncertain significance (VUS), rather than an obviously pathogenic mutation, is identified in one of these genes. The inability to define pathogenicity of such variants precludes targeted healthcare. Here, we have modified a cell-free assay to test VUS in...

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Source

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Identifiers

PMID: 24027009
DOI: 10.1002/humu.22426
PMCID: PMC3858603

Genes

PMS2

Provenance

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