PTEN Gene Mutations (Cowden Syndrome)
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.
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.
Cancer Treatment Options
People with a mutation who have been diagnosed with cancer may qualify for specific treatments or clinical trials.
Other Considerations
mutations are linked to , which can cause medical conditions beyond cancer. Learn about other important considerations for people with inherited mutations.