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.