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Hereditary Colon Cancer

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 for patients. 


A Test in Focus


Lindsey Waltman, M.S. CGC, gives an overview of the Lynch Syndrome panel available through Mayo Clinic Laboratories. She discusses when this testing should be ordered, how this testing compares to other testing approaches, and what clinical action can be taken due to the results of this testing.

Which test should I order?

Learn more about how to order these evaluations at your institution.