Cancer risk associated with an inherited PTEN mutation
If you have tested positive for a PTEN mutation, we recommend consulting with a genetics expert who can assess your personal and family history of cancer, and can help you determine the best risk management plan.
People with an inherited PTEN have a greatly increased lifetime risk of developing several types of cancer, with about an 85 percent lifetime risk for developing any cancer. The risks for cancer tend to happen at a younger age at
Risks for women
Women who have an inherited mutation in PTEN have an increased lifetime risk for these cancers:
- Breast cancer: The lifetime risk for a women with a PTEN mutation is about 50 - 85 percent compared to 12.5 percent for an average risk woman. The average age of diagnosis is 38 - 50 years, compared to 55 - 64 years in an average risk woman.
- Endometrial cancer: The lifetime risk for a women with a PTEN mutation is about 25 - 30 percent compared to 3 percent for an average risk woman.
Risks for men and women
Men and women who have a mutation in PTEN are at increased risk of developing these cancers:
- Renal (kidney): The lifetime risk for a person with a PTEN mutation is about 30 - 35 percent compared to 1-2 percent for an average risk person.
- Thyroid: The lifetime risk for a person with a PTEN mutation is about 35 percent compared to 1 percent for an average risk person. People with inherited PTEN mutations are also at increased risk for benign thyroid conditions (e.g., goiter and benign growths)
- Colorectal: The lifetime risk for a person with a PTEN mutation is about 5 - 10 percent compared to 4 percent for an average risk woman. Most people with inherited PTEN mutations will develop colorectal and other gastrointestinal polyps, which could become cancers. These may start at a young age.
- Melanoma: The lifetime risk for a women with a PTEN mutation is about 6 percent compared to 2.5 percent for an average risk person. People with PTEN mutations may develop melanoma at a young age.
If you are a person with an inherited PTEN mutation, you can find peer support through the following resources:
- Register for the FORCE Message Boards to connect with others who share your situation. Once you register, you can post on the Share Your Mutation board to connect with other people who carry a PTEN mutation.
- FORCE's Peer Navigation Program will match you with a volunteer who shares your mutation and situation and provide you with a free resource guide.
- Contact your local FORCE impact leaders to be connected to resources in your community.
Attend an online support meeting.
Support through other organizations:
- The PTEN Hamartoma Tumor Syndrome Foundation has resources for people affected by an inherited PTEN mutation.