Hereditary Cancer and Genetic Testing

Cancer risk associated with an inherited  mutation

If you have tested positive for a  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  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.

Graph of lifetime risk for colorectal cancer in people with a <button
                x-data
                class='glossary-tip tt-pms2'
                x-tooltip='<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</button> mutation     Graph of lifetime risk for endometrial cancer in people with a <button
                x-data
                class='glossary-tip tt-pms2'
                x-tooltip='<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>
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            >PMS2</button> 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 mutations is under debate. The following cancers have been linked with the other genes associated with . However, some studies suggest no increased risk for the following cancers in people with a mutation:

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

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

find-support find-support

FORCE offers many peer support programs for people with inherited mutations. 

updated: 03/12/2022

clinical-trials clinical-trials

The following screening and prevention studies are open to people with

Multiple cancers

Colorectal cancer

Gynecologic cancers

 cancer

  • NCT03805919: Men at High Genetic Risk for  Cancer. This is a  cancer screening study using  in high risk men. This study is open to men with  and other mutations.
  • NCT05129605: Cancer Genetic Risk Evaluation and Screening Study (PROGRESS).  This study will look at how well  MRI works as a screening tool for men at high risk for cancer. This study is open to men with inherited mutations in , , , , , , HOXB13, , , , , , , , , and other genes. 

Pancreatic cancer

  • NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esopheal  to screen for pancreatic cancer in high risk people. The study is open to people with a  mutation or other mutation linked to increased cancer risk who also have a family history of pancreatic cancer.
  • NCT03568630: Blood Markers of Early Pancreas Cancer.  This pancreatic cancer study involves blood samples over time to look for biomarkers of pancreatic cancer in high risk people. The study is open to people with an  mutation or other mutation linked to increased cancer risk.
  • NCT03250078: A Pancreatic Cancer Screening Study in Hereditary High Risk Individuals. The main goal of this study is to screen and detect pancreatic cancer and precursor lesions in individuals with a strong family history or genetic predisposition to pancreatic cancer.  and Magnetic cholangiopancreatography (MRI/MRCP) will be utilized to screen for early  pancreatic lesions.

A number of other clinical trials for patients with endometrial cancer can be found here.

updated: 03/14/2022

Last updated March 17, 2022