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.
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
Signs and symptoms of endometrial (uterine) cancer
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:
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.