Reliable Clinical MLH1 Promoter Hypermethylation Assessment using a High-Throughput Genome-Wide Methylation Array Platform

Clinical testing for MLH1 promoter hypermethylation status is important in the workup of patients with MLH1-deficient colorectal and uterine carcinomas when evaluating patients for Lynch Syndrome. Current assays utilize single gene –based methods to assess promoter hypermethylation. Herein, we describe the development, and report the performance of a clinical assay for MLH1 promoter hypermethylation using the Infinium methylationEPIC (850k) bead-array platform. Using four CpG sites within the MLH1 gene promoter, a qualitativ e MLH1 promoter hypermethylation assay was developed and validated using 63 gastrointestinal and uterine carcinoma samples of known hypermethylation status based on a pyrosequencing reference test.

Source: Journal of Molecular Diagnostics - December 23, 2019 Category: Pathology Authors: Jamal K. Benhamida, Jaclyn F. Hechtman, Khedoudja Nafa, Liliana Villafania, Justyna Sadowska, Jiajing Wang, Donna Wong, Ahmet Zehir, Liying Zhang, Tejus Bale, Maria E. Arcila, Marc Ladanyi Source Type: research