Risk management for people with inherited PTEN mutations

The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for men and women with inherited PTEN mutations. We recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you determine the best risk management plan. You can learn more about risk management options in our section on Screening and Risk Reduction by Cancer Type.

• Breast cancer
• Endometrial cancer
• Other cancers

Breast cancer risk management

Breast cancer screening

• Learning to be aware of changes in breasts beginning at age 18.
• Clinical breast exam every 6-12 months beginning at age 25 (or 10 years earlier than the youngest age of onset in the family).
• Annual mammography with consideration of tomosynthesis and breast MRI with contrast beginning at age 30-35 (or 5-10 years earlier than the youngest breast cancer in the family).  

Risk-reducing mastectomy

• Women should have a discussion with their doctors about of the advantages and disadvantages of risk-reducing mastectomy.
  • Research has shown that risk-reducing mastectomy can effectively lower the risk for breast cancer in high risk women by about 90%. Despite this, mastectomy has not been shown to improve overall survival for high risk women. Even after mastectomies, some breast tissue-and therefore some breast cancer risk remains. 

Endometrial cancer risk management

• Women should be educated on the possible symptoms of ovarian or uterine cancer. They should immediately report any unusual vaginal bleeding, pelvic or abdominal pain, bloating, increased abdominal girth, difficulty eating, or increased urinary frequency or urgency to health care providers
• Women should keep a calendar of their menstrual cycle and note any irregular bleeding or any postmenopausal bleeding.
• Consider endometrial biopsy every 1 to 2 years beginning at age 35.
• Consider transvaginal ultrasound for postmenopausal women.
• Consider hysterectomy after childbearing is complete.

Other cancers

The National Comprehensive Cancer Network (NCCN) guidelines recommend:

• Annual comprehensive physical exam beginning at age 18 or 5 years earlier than the earliest cancer diagnosis in a family.
• Annual thyroid ultrasound beginning at age 7.
• Colonoscopy beginning at age 35 unless symptomatic or if a close blood relative had colon cancer before age 40. Continue screening every 5 years.  
• Consider renal ultrasound beginning at age 40 then every 1-2 years.
• Annual skin exams.
• Consider psychomotor assessment in children at diagnosis and brain MRI if there are symptoms.

There has not been enough research to show a benefit from screening and prevention for other cancers in people who have a PTEN mutation. For this reason, experts recommend managing other cancer risks based on family history.  Cancer screening and prevention research studies may be available for people with PTEN mutations.