An algorithmic approach to
hereditary colon cancer testing

Lynch syndrome, an autosomal dominant cancer syndrome, is associated with germline mutations in the MLH1, MSH2, MSH6, PMS2, and/or EPCAM genes. While not diagnostic, high-MSI and/or defective-MMR are considered hallmark features of Lynch syndrome. The results from MSI and MMR testing will identify patients for whom further testing, including germline sequencing, is appropriate. 

Diagnosis of Lynch syndrome is complex and requires several tests, often times leading to confusion over which test should be ordered when. Our algorithmic approach aids with the ordering process and guides physicians to ensure the right tests are being ordered at the right time. 

Key testing

TMSI | Microsatellite Instability, Tumor

IHC | Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor

LYNCP | Lynch Syndrome Panel

BRMLH | MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor, Varies