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Cancer Risks in Lynch Syndrome

Individuals with Lynch syndrome caused by an inherited germline mutation in a mismatch repair gene (MLH1, MSH2, MSH6, PMS2 and EPCAM)  have an increased risk for colon cancer and other cancers including cancers of the endometrium (uterus), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The following tables are gene specific cancer risks for individuals with Lynch syndrome. These are life time risks, meaning that a person is not born with stated but rather the risk of the particular cancer accumulates over their lifetime (age 70-80). These cancer risks are based upon current research in Lynch syndrome but may change as we learn more about Lynch syndrome and other genetic factors that apply to cancer risk.


Lynch Syndrome Cancer Risks based upon NCCN Guidelines Version 1.2014

Cancer Risk Up to Age 70 in Individuals with Lynch Syndrome Compared to the General Population


Cancer Type General Population Risk MLH1 and MSH2 MSH6 PMS2
Risk Mean Age of Onset Risk Mean Age of Onset Risk Mean Age of Onset


5.50% 50%-80% 44-61 years 10-20% 54 years 15-20% 61-66 years
Endometrium 2.70% 25%-60% 48-62 years 16-26% 55 years 15% 49 years
Stomach <1% 1%-13% 56 years <3% 63 years * 70-78 years
Ovary 1.60% 4%-24% 42.5 years 1-11% 46 years * 42 years
Hepatobiliary tract <1% 1.4%-4% 50-57 years Not reported Not Reported * Not reported
Urinary tract <1% 1%-4% 54-60 years <1% 65 years * Not reported
Small bowel <1% 3%-6% 47-49 years Not reported 54 years * 59 years
Brain/central nervous system <1% 1%-3% ~50 years Not reported Not reported * 45 years
Sebaceous neoplasm <1% 1%-9% Not reported Not reported Not reported Not reported Not reported
Pancrease <1% 1-6% Not reported Not reported Not reported Not reported Not reported


*The combined risk of renal pelvis, stomach, ovary, small bowel, ureter and brain is 6% by age 70 in a person with a PMS2 mutation.

Senter, L. et. al. “The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations.” Gastroenterology. 2008;135:419-428.3.

Signs and symptoms of cancers associated with Lynch syndromeSigns and symptoms of colon cancer

  • Bleeding from the rectum
  • Blood in the stool or toilet after a bowel movement
  • A change in the shape of the stool (i.e. thinning)
  • Cramping pain in the abdomen
  • Feeling the need to have a bowel movement when you don't actually have to

Signs and symptoms of endometrial (uterine) cancer

  • Vaginal bleeding (in a post-menopausal woman)
  • Abnormal bleeding (including bleeding in between periods, or heavier/longer lasting menstrual bleeding)
  • Abnormal vaginal discharge (may be foul smelling)
  • Pelvic or back pain
  • Pain on urination
  • Pain on sexual intercourse
  • Blood in the stool or urine

Signs and symptoms of ovarian cancer For many years, ovarian cancer has been called a "silent killer" because it was thought that symptoms did not develop until the disease was advanced. Recently, ovarian cancer experts found that this was not true, and most women had symptoms early on that were dismissed by themselves or their healthcare providers.The symptoms that are more likely seen in women with ovarian cancer than healthy women include:

  • Bloating
  • Pelvic or abdominal pain
  • Difficulty eating or feeling full quickly or "heart burn"
  • Urinary symptoms (urgency or frequency)

If you have these symptoms for two weeks or more you should contact your doctor.  Knowledge is power.If you know you have Lynch syndrome then you can take steps to prevent these cancers. To learn about screening for these cancers visit our Managing Lynch Syndrome page under next steps for you.