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PTEN Gene Mutations (Cowden Syndrome)

Learn about the cancer risks, screening, prevention and treatment options for people with inherited PTEN mutations. Stay up to date by signing up for our community newsletter.
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Information for People with Inherited Mutations ()

What is a mutation?

Inherited mutations in  cause  Hamartoma Tumor Syndrome (PHTS). There are two conditions that may be  associated with PHTS, and Bannayan-Riley-Ruvalcaba syndrome.

What are the cancer risks for people with a mutation?

People with an in  have a very high lifetime risk for different types of cancers, including:

  • breast cancer
  • endometrial cancer
  • kidney cancer
  • thyroid cancer
  • colorectal cancer
  • other cancers

What can people with a mutation do?

There are expert guidelines with recommendations for screening and prevention of these cancers. 

People with an inherited  mutation who have been diagnosed with cancer may also qualify for specific treatment or clinical trials. Treatment clinical trials are enrolling people with TPEN mutations. 

There may be other medical concerns for people with a mutation, including cancer risks for children beginning at a young age.

Each of these topics is outlined in more detail in the sections highlighted below. 

More Information on Mutations

Cancer Risks

Cancer risk estimates are updated based on the latest research. Read about the lifetime risk for different cancers in people with inherited mutations. 

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Risk Management Options

Read about the latest expert guidelines for cancer screening and prevention for people with a mutation. Learn about research studies enrolling high-risk patients.   

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Cancer Treatment Options

People with a mutation who have been diagnosed with cancer may qualify for specific treatments or clinical trials. 

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Other Considerations

mutations are linked to , which can cause medical conditions beyond cancer. Learn about other important considerations for people with inherited mutations. 

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Last updated September 06, 2024