How Do We Manage Li-Fraumeni Syndrome and TP53?
Diagnosis
Genetic counseling and testing are recommended for people who think they may be at risk for Li-Fraumeni syndrome (LFS). LFS is a hereditary condition which is often associated with a pathogenic or likely pathogenic variant (mutation) in the TP53 gene (TP53 positive genetic test result or TP53+ result).
- An evaluation usually begins with a cancer risk assessment in which patients meet with a genetic counselor and a doctor who specialize in inherited cancers. They will ask about your personal and family history of cancer and explain how your history may affect your cancer risk.
- If genetic testing is recommended, a blood or saliva sample will be taken and sent to a lab for analysis of the TP53 gene and other cancer susceptibility genes. Once the results are available, we discuss the results with you and explain the implications for you and your relatives.
- If you are found to carry a TP53+ result, other tissue samples, such as a skin biopsy, may be collected to confirm an LFS diagnosis.
Not all TP53+ results detected in blood mean a person has LFS. Before we recommend LFS management, it is important to confirm the diagnosis. Instead, we may think that the TP53+ result in your genetic test is because of age, because of chemotherapy for cancer in the past, or because of other reasons. We would then work to figure out the other reason for the TP53+ result in your blood test, and determine the best management for your cancer risk.
If you are found to have LFS, we will discuss guidelines for your medical management. Genetic counselors, psychologists, surgeons, oncologists, radiologists, and social workers are also available to talk with you and your family.
Learn about our Center's research studies and clinical trials for people with LFS and TP53+ results.
Maintaining Your Health
We offer comprehensive clinical care for our patients, acting as your advocate. Our experienced clinicians will collaborate with your primary care physician and other providers to ensure that you are getting all the cancer screening procedures you need in a timely manner. To ensure the proper screenings, which may include imaging studies (e.g. mammography, MRI, or ultrasounds), blood work, endoscopies, and comprehensive physical exams. We will coordinate care with the appropriate specialists, including the following: breast care specialists, dermatologists, gastroenterologists, surgeons, oncologists, radiologists, psychologists, and genetic counselors.
The Pediatric Cancer Genetic Risk Program will be offered to children with LFS, with TP53+ results, or a family history of LFS. We are here to provide psychological support and resources for support groups and LFS advocacy groups. The role played by patient advocacy groups is critical for people with LFS across the age spectrum, and their families.
All referrals are handled by our scheduling staff based on expert recommendations to keep you on track and help detect the development of cancer. If you are followed in our Center, our scheduling staff will help coordinate your care, which may be part of a clinical trial.
Creating a Personalized Health Plan for You and Your Family
Our expert staff will create a personalized plan for you on how to manage your risk. Our team will help shape lifestyle changes around your risk of cancer, such as:
- Coordinating enrollment in smoking cessations programs
- Discussing nutrition and a healthy diet
- Developing an exercise plan with yearly goals
- Prescribing chemoprevention with aspirin and other agents
