Hypermethylation Test Guides Lynch Syndrome Care


Answers From the Lab

Lynch syndrome is a genetic condition that increases the risk for many kinds of cancer. In this test-specific episode of the "Answers From the Lab" podcast, Megan Hoenig, M.S., M.P.H., CGC, explains how Mayo Clinic Laboratories' unique MLH1 hypermethylation analysis on blood (Mayo ID: MLHPB) provides critical adjunct information for managing these risks for patients and their families.

The analysis goes beyond standard next generation sequencing by identifying hypermethylation of the MLH1 gene in the blood— a finding known as constitutional hypermethylation. Constitutional hypermethylation still confers a diagnosis of Lynch syndrome and is associated with an increased cancer risk.

"This really is an important test. Anyone who has a Lynch tumor with hypermethylation, young age at diagnosis, and/or multiple primary tumors should be offered this test because both positive and negative results have an implication for them," Hoenig says.

The National Comprehensive Cancer Network has issued guidelines for managing patients with  Lynch syndrome, including those with constitutional MLH1 hypermethylation. "Colonoscopies are recommended at an increased frequency. There are also risk-reducing surgeries recommended for endometrial and ovarian cancer," Hoenig says.

Family members also benefit from testing. "We know that most of the time, this condition is sporadic — meaning only one individual in the family has this. But it's important for family members to be tested so their risk for Lynch syndrome is clarified," Hoenig says.

Listen to learn more about Mayo Clinic Laboratories' unique MLHPB test.

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Barbara J. Toman

Barbara J. Toman is a Senior Communications Specialist at Mayo Clinic Laboratories. She is also the science writer for Mayo’s Neurosciences Update newsletter, which helps referring physicians to stay informed about Mayo’s treatment and research. Barbara has worked at Mayo Clinic since 2007. She enjoys international travel and cooking.