GTR Home > Conditions/Phenotypes > Lynch syndrome

Disease characteristics

Excerpted from the GeneReview: Lynch Syndrome
Lynch syndrome, caused by a germline mutation in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk of colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following life time risks for cancer are seen: 52%-82% for colorectal cancer (mean age at diagnosis 44-61 years); 25%-60% for endometrial cancer in women (mean age at diagnosis 48-62 years); 6% to 13% for gastric cancer (mean age at diagnosis 56 years); and 4%-12% for ovarian cancer (mean age at diagnosis 42.5 years; approximately 30% are diagnosed before age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates.

Associated genes

  • Also known as: DIAR5, EGP-2, EGP314, EGP40, ESA, HNPCC8, KS1/4, KSA, M4S1, MIC18, MK-1, TACSTD1, TROP1, EPCAM
    Summary: epithelial cell adhesion molecule

Go to complete MedGen record for Lynch syndrome

Suggested reading

Clinical resources

Practice guidelines

  • EGAPP, 2009
    Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives
  • NSGC, 2004
    Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
  • ASCRS, 2001
    Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk