PMS2 Gene Mutations (Lynch Syndrome)
Information about Inherited Mutations
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What is a PMS2 mutation?
PMS2 is a gene that helps repair damage to your . Inherited mutations in the PMS2 gene cause Lynch syndrome. Other names for Lynch syndrome include:
- Hereditary Nonpolyposis Colorectal Cancer ()
- Muir-Torre syndrome, which refers to a subset of Lynch syndrome in which people have an increased risk of developing rare skin tumors.
Which cancers are associated with an PMS2 mutation?
People with an inherited PMS2 mutation have an increased risk for many cancers, especially of the large intestine (the colon and the rectum) and uterus (endometrium). Expert guidelines include estimates of the lifetime cancer risks for people with PMS2 mutations.
Does everyone with a PMS2 mutation develop cancer?
Although the lifetime risk for cancer with an PMS2 mutation is high, not everyone with the mutation develops cancer. Following the guidelines for screening and prevention increases the chances of preventing cancer or catching it at its earliest and most treatable .
Can PMS2 mutations skip a generation?
PMS2 mutations are passed down from parents to children, but they do not skip generations. Each person with an PMS2 mutation has a 50% chance of passing their mutation on to each of their children. Children who did not inherit their parent's PMS2 mutation cannot pass the mutation to their children.
People with an PMS2 mutation who never develop cancer can still pass their mutation on to their children. A child who inherits their parent's PMS2 mutation will be at increased risk for cancer.
What can people with a PMS2 mutation do?
People with a PMS2 mutation have options for screening, prevention and treatment of . There are expert guidelines and clinical trials that focus on:
- screening and early detection
- risk-reduction
- treatment
There may be other medical concerns, including a rare childhood disease known as “constitutional (CMMRD),” which can happen in people who inherit a mutation in both copies of their PMS2 gene.
If you test positive for a PMS2 mutation, you should inform your close blood relatives (first-, second-, and third-degree relatives) about your test results and encourage them to speak with a genetics expert.
More detailed information for people with inherited PMS2 mutations is highlighted below.
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Information for People with a PMS2 Mutation
Cancer Risks
Cancer risk estimates are updated based on the latest research. Read about the lifetime risk for different cancers in people with and inherited PMS2 mutation.
Risk Management Options
Read about the latest expert guidelines for cancer screening and prevention for people with an PMS2 mutation. Learn about research studies enrolling high-risk patients.
Cancer Treatment Options
Tumor biomarker testing and genetic testing can provide additional clues about which treatments may work best for your cancer. People who test positive for an PMS2 mutation may have additional treatment or clinical trial options available to them.
Other Considerations
People who inherit a mutation in both copies of their PMS2 gene—one from each parent—have a rare disease known as "constitutional mismatch repair deficiency." Learn additional information about inherited PMS2 mutations.
More Resources
Participate in Prevention Research
The screening and prevention studies below are enrolling people with PMS2 mutations. To search for more studies, visit our Search and Enroll Tool.
Pancreatic Cancer Screening Study (CAPS5)
Clinicaltrials.gov identifier: NCT02000089
The DETECT Study: Detecting Endometrial Cancer in Tampons
Clinicaltrials.gov identifier: NCT03538665
Early Detection of Colorectal Cancer for People with Lynch Syndrome
Clinicaltrials.gov identifier: NCT05410977
Clinicaltrials.gov identifier: NCT05396846
Studying the Use of Naproxen and Aspirin for Cancer Prevention in People with Lynch Syndrome
Clinicaltrials.gov identifier: NCT05411718
Participate in Treatment Research
The treatment studies below are enrolling people with PMS2 mutations. To search for more studies, visit our Search and Enroll Tool.
New Treatment in People with Triple Negative Breast Cancer or Advanced Solid Tumors
Clinicaltrials.gov identifier: NCT06022029
Nivolumab and Relatlimab in Advanced MSI-H Cancers Resistant to Prior PD-L1 Inhibitor
Clinicaltrials.gov identifier: NCT03607890
Watch Our Webinars for People with Lynch Syndrome
What's new for people with Lynch syndrome?
Spotlight on Hereditary Cancer Research