Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
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ABSTRACT:
SUBMITTER: Drost M
PROVIDER: S-EPMC3858603 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Publications
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
Drost Mark M Koppejan Hester H de Wind Niels N
Human mutation 20130911 11
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 the MMR gene PMS2 for functional activity. We have analyzed nearly all VUS in PMS2 f ...[more]
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