Gastroenterology

Methylation Tolerance-based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome






Approximately 75% of patients with suspected Lynch syndrome carry variants in MLH1 or MSH2—proteins encoded by these genes are required for DNA mismatch repair (MMR). However, 30% of these are variants of unknown significance (VUS). A assay that measures cell response to the cytotoxic effects of a methylating agent can determine the effects of VUS in MMR genes and identify patients with constitutional mismatch repair-deficiency syndrome. We adapted this method to test the effects of VUS in MLH1 and MSH2 genes found in patients with suspected Lynch syndrome.

Source link






Related posts

The culprit of mesalamine intolerance: case series and literature review

Newsemia

CMS Approves GIQuIC as a Qualified Clinical Data Registry for the 2017 Reporting Year

Newsemia

Activation of PXR by alantolactone ameliorates DSS-induced experimental colitis via suppressing NF-κB signaling pathway

Newsemia

This website uses cookies to improve your experience. We'll assume you're ok with this, but you can opt-out if you wish. Accept Read More

Privacy & Cookies Policy