Read about different genes that are linked to hereditary cancer, their associated risks and guidelines for screening, preventing and treating cancers in people with inherited mutations in these genes.

Cancer risk associated with an inherited PMS2 mutation

If you have tested positive for a PMS2 mutation, we recommend speaking with a genetics expert who can assess your personal and family history of cancer, and can help you decide on the best risk management plan.

People with an inherited PMS2 mutation have an increased lifetime risk for several cancers. Additionally, the cancers tend to occur at a younger age than people in the general population. The following are the most common cancers:

  • colorectal 
    • lifetime risk of 8.7 - 20 percent compared to 4 percent in the general population.
    • average age of diagnosis is 61-66 compared to 68 - 72 in the general population. 
  • endometrial 
    • lifetime risk of 13-26 percent compared to 3 percent in the general population.
    • average age of diagnosis is 49 - 50 compared to 60 in the general population.

Lifetime risk for colorectal cancer in people with a <abbr
                class='glossary-tip tt-pms2'
                title='<p>PMS2&nbsp;is a gene found on chromosome 7.&nbsp;Mutations in PMS2&nbsp;are associated with Lynch Syndrome. People with Lynch Syndrome have an&nbsp;increased the risk for&nbsp;colon, uterine, ovarian, pancreatic and other cancers.</p>

<p>Also see Lynch Syndrome.</p>
            >PMS2</abbr> mutation     

Other cancer risks

The exact risk for skin growths called sebaceous neoplasia of the skin has not been well established, but experts believe the risk is increased.

The risk for the following cancers in people with PMS2 mutations is under debate. The following cancers have been linked with the other genes associated with Lynch syndrome. However, some studies suggest no increased risk for the following cancers in people with a PMS2 mutation:

  • ovarian cancer
  • stomach cancer
  • bladder and other urinary tract cancers
  • small bowel cancer
  • central nervous system cancer
  • pancreatic cancer
  • female breast cancer
  • prostate cancer

Research on how mutations in the PMS2 gene affect cancer risk is ongoing.

  • NCT00508573: Registry for Women Who Are At Risk Or May Have Lynch Syndrome. The goal of this study is to create a registry of information about women who have or are at risk for Lynch syndrome, in order to study gynecologic cancer risks.
  • The HEROIC Registry allows people with Lynch syndrome to contribute medical information and their experiences living with Lynch Syndrome and its associated cancers to help researchers develop new treatments, understand the various Lynch genetic mutations, and conduct further studies and clinical trials. The registry is maintained by the nonprofit organization AliveAndKickn.