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What You Should Know About PTEN Pathogenic/Likely Pathogenic Variants
Individuals with a pathogenic/likely pathogenic (P/LP) variant in the PTEN gene have PTEN hamartoma tumor syndrome (PHTS), which is a spectrum of several conditions that have overlapping features. This spectrum includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and PTEN-related autism spectrum. PHTS can cause noncancerous, tumor-like growths called hamartomas throughout the body. There is also an increased risk for several types of cancer, including breast, thyroid, kidney, uterine, colon, and skin cancers.
UT Southwestern Medical Center is recognized by the PTEN Hamartoma Tumor Syndrome Foundation as a PTEN Clinical Center of Excellence. This means that our team has outstanding expertise in handling the health care needs of individuals with PHTS.
Cancer Risks Associated with a PTEN Mutation
Females with a PTEN P/LP variant may have more than a 60% lifetime risk for breast cancer and up to a 30% lifetime risk for uterine cancer. Males and females with the variant have up to a 35% lifetime risk for thyroid cancer, up to a 35% lifetime risk for kidney cancer, a 20% lifetime risk for colon cancer, and a 5-10% risk for melanoma (skin cancer).
Managing Cancer Risks
UT Southwestern’s Genetic Cancer Prevention Clinic (GCPC) helps ensure people are receiving appropriate cancer surveillance and management based on their genetic testing results. For more information about the GCPC or to request an appointment, please call us at 214-645-2563.
Female Breast Cancer
- Breast specialists work with patients to determine appropriate surveillance and risk management.
- Our specialists follow recommendations from the National Comprehensive Cancer Network (NCCN), including:
- Annual mammogram and annual breast magnetic resonance imaging (MRI) starting at age 30
- Consideration of risk-reducing mastectomy, depending on personal risk factors for cancer and family history of cancer
Thyroid Cancer
- Endocrinology specialists work with patients to manage hereditary thyroid cancer risk.
- Surveillance is often based on NCCN guidelines, including:
- Annual thyroid ultrasound starting at age 7
Colon Cancer
- Gastroenterology specialists work with patients to determine appropriate risk management for hereditary colorectal cancer.
- Our specialists follow NCCN recommendations, including:
- Colonoscopy at least every five years starting at age 35
Other Cancers
- UTSW experts from other specialties, such as gynecologic oncology, urology, dermatology, or internal medicine, may also be an important part of the care team.
- Additional surveillance or management recommendations might include:
- Annual renal ultrasound
- Consideration of hysterectomy
- Annual dermatology examination
Risks to Family Members
P/LP variants in the PTEN gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with a PTEN P/LP variant have a 1 in 2 (or 50%) chance of having the P/LP variant as well. Both males and females can inherit a familial PTEN P/LP variant, and both males and females can pass it on to their children.