MLH1 Promoter Hypermethylation: Development and Preliminary Validation of a Methylation-Specific High Resolution Melt Curve Analysis (MS-HRM) Assay for use in a Lynch Syndrome Pre-Screen Pathway

Background Lynch Syndrome (LS) is associated with germline mutations in genes encoding the mismatch repair proteins, leading to mismatch repair deficiency (dMMR). dMMR can also arise somatically by methylation mediated silencing of the MLH1 gene promoter. In colorectal cancer, there is a strong association between the BRAFVal600Glu mutation and MLH1 promoter hypermethylation, thus analysis of … Continue reading MLH1 Promoter Hypermethylation: Development and Preliminary Validation of a Methylation-Specific High Resolution Melt Curve Analysis (MS-HRM) Assay for use in a Lynch Syndrome Pre-Screen Pathway