MethylDetect’s assay targetting MLH1 gene is now a part of the NICE-mandated Lynch Syndrome pre-screen test.
The results showing the performance of our MLH1 methylation testing assays, performed in collaboration with Sarah Cannon Molecular Diagnostics, https://sarahcannon-md.co.uk , were presented at the National Cancer Research Institute conference 2018.
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
The test was designed for use in accordance with the latest NICE and ACGS guidelines relating to Lynch Syndrome pre-screening, are now available upon demand.