Li-Fraumeni Syndrome | Genetics and Hereditary Cancers

What You Should Know About Li-Fraumeni Syndrome

Li-Fraumeni syndrome is caused by pathogenic/likely pathogenic (P/LP) variants in the TP53 gene. Individuals with a P/LP variant in the TP53 gene have an increased risk for a broad spectrum of cancers. The most common cancer types seen include breast cancer, brain cancer, blood or hematologic cancers, sarcomas, and tumors of the adrenal gland (adrenocortical carcinoma).

UT Southwestern Medical Center is home to one of the largest hereditary cancer programs in the country, providing expert care for individuals with Li-Fraumeni syndrome.

Cancer Risks Associated with Li-Fraumeni Syndrome

The lifetime risk of cancer for females with Li-Fraumeni syndrome is nearly 100%, primarily due to the risk for breast cancer (greater than 60%). The lifetime risk of cancer for males with Li-Fraumeni syndrome is approximately 70%. About half of all Li-Fraumeni syndrome cancers occur before age 40.

Managing Cancer Risks

It is hard to predict when and which cancers will develop in children and adults with Li-Fraumeni syndrome. Having regular medical check-ups and cancer screening tests provides the best opportunity for detecting these cancers at early and treatable stages.

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.

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 magnetic resonance imaging (MRI) starting at age 20
- Annual mammogram starting at age 30
- Consideration of risk-reducing mastectomy

Other Cancers

UT Southwestern experts from other specialties, such as internal medicine, surgical oncology, gastroenterology, dermatology, or gynecologic oncology, may also be an important part of the care team.
Additional surveillance or management recommendations might include:
- Comprehensive physical examination
- Abdominal and pelvic ultrasound for sarcoma surveillance
- Abdominal MRI and/or upper endoscopy for pancreatic cancer surveillance
- Colonoscopy and upper endoscopy for gastrointestinal cancer surveillance
- Dermatologic examinations for skin cancer surveillance
- Whole-body and brain MRI for sarcoma and brain tumor surveillance
- Additional screenings or earlier ages of screenings, depending on personal risk factors and family history

Risks to Family Members

P/LP variants in the TP53 gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with a TP53 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 TP53 P/LP variant, and both males and females can pass it on to their children.