Validation of an in vitro mismatch repair assay used in the functional characterization of mismatch repair variants

A significant proportion of DNA mismatch repair (MMR) variants are classified as of unknown significance (VUS), precluding diagnosis. The in vitro MMR assay is used to assess their MMR capability, likely the most important function of a MMR protein. However, robustness of the assay, critical for its use in the clinical setting, has been rarely evaluated. The aim of the present work was to validate an in vitro MMR assay approach for the functional characterization of MMR variants, as a first step to meeting quality standards of diagnostic laboratories.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular Article Source Type: research