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A new interesting article has been published in J Mol Diagn. 2019 Dec 24. pii: S1525-1578(19)30457-X. doi: 10.1016/j.jmoldx.2019.12.001. and titled:

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

Authors of this article are:

González-Acosta M, Hinrichsen I, Fernández A, Lázaro C, Pineda M, Plotz G, Capellá G.

A summary of the article is shown below:

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. The MMR assay was optimized by testing a variety of reagents and experimental conditions. Reference materials and standard operating procedures were established. To determine the intra- and inter-experimental variability of the assay and its reproducibility among centers, independent transfections of six previously characterized MLH1 variants were performed in two independent laboratories. Optimal reagents and conditions to perform the in vitro MMR assay were determined. The validated assay demonstrated no significant intra-experimental or inter-experimental variability and good reproducibility between centers. We have set up a robust in vitro MMR assay that can provide relevant in vitro functional evidence for MMR variant pathogenicity assessment, eventually improving the molecular diagnosis of hereditary cancer syndromes associated with MMR deficiency.Copyright © 2019. Published by Elsevier Inc.

Check out the article’s website on Pubmed for more information:

[link-preview url=https://www.ncbi.nlm.nih.gov/pubmed/31881334 forceshot=true]

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