Lynch Syndrome, MSH2 Sequencing and Deletion/Duplication (Including EPCAM)

Laboratory assay overview

Sequencing: This test should be offered to patients with colorectal cancer who meet the Bethesda criteria established by the National Cancer Institute (NCI), and/or that their tumors display microsatellite instability (MSI) or replication error (RER) phenotype. Detection of a germline mutation in one of the mismatch repair genes helps to establish a clinical diagnosis of HNPCC in affected patients. Mutation detection in at risk family member allows predictive diagnosis of the disease and thus intensive screening and early intervention of cancer. Deletion/Duplication: This assay detects deletions and/or duplication involving one or more exons for the MSH2 gene, and exons 8 and 9 for the EPCAM gene. This assay cannot detect smaller genetic alterations, such as point mutations affecting amino acid coding or mRNA splicing. This assay cannot detect mutations affecting MSH2 and EPCAM gene regions not examined in the assay (including most of the intronic regions). This assay cannot rule out the presence of germline mutations involving other mismatch repair genes.