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PTEN Gene Mutations (Cowden Syndrome)

Learn about the cancer risks and medical options for people with inherited PTEN mutations.

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Glossary on

Information for People with Inherited Mutations ()

mutations are linked to a condition known as . 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

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. This includes a new type of known as an AKT inhibitor that was just approved for treating breast cancer in people with mutations in their tumor. Treatment clinical trials are enrolling people with TPEN mutations. 

Some mutations in cause or Bannayan-Riley-Ruvalcaba syndrome. Together these syndromes are known as Hamartoma Tumor syndrome (PHTS). 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. 

More info

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. 

More info

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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More Resources

Last updated February 25, 2024