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Zooming in on Lynch Syndrome! Day 1 - Hereditary Cancer Awareness Week

Courtesy of Dana-Farber Cancer Institute

Lynch Syndrome is caused by mutations in five different genes: MLH1, MSH2, MSH6, PMS2, and EPCAM. These genes work together to help fix errors in DNA. When one of the genes has a mutation, it cannot do its job correctly in the body and the risk for developing cancer over the course of a person’s lifetime is increased.

Lynch Syndrome is inherited in an autosomal dominant pattern, which means that only one mutated copy of a gene is necessary to increase the risk for cancer develop Lynch Syndrome. Both males and females can have Lynch Syndrome and pass on mutations in the Lynch Syndrome genes. If someone has mutations in both copies of of the same Lynch Syndrome-associated gene, they will have a condition called constitutional mismatch repair deficiency (CMMRD), which increases the risk for childhood cancers. Therefore, individuals with Lynch Syndrome may consider partner testing before having children, to gain information about the risk for CMMRD.

Approximately 1 in 280 individuals in the United States have Lynch Syndrome. The risk of developing cancer is increased, most significantly for colon, rectal, and endometrial (uterine) cancers. Other cancer types associated with Lynch Syndrome are stomach, small intestine, urinary tract, and brain. Not all people with Lynch Syndrome will develop cancer, but because their risk is increased over that for the general population, those with Lynch Syndrome follow more frequent screening guidelines, such as undergoing colonoscopies every 1-2 years.

Take a look at these links below to learn more about Lynch Syndrome:

To find an inherited GI Cancer Genetics Clinic near you, check out the “Find a Clinic” page on the CGA-IGC website:

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