Li-Fraumeni syndrome (LFS) raises the risk of getting many types of cancer. LFS happens as a result of changes (also called mutations or variants) in the TP53 gene. LFS-related cancers often happen when the person is a child or young adult, though they can also occur at older ages.
Cancer Risk in People with Li-Fraumeni Syndrome
The risk of getting cancer varies for each person with LFS. It depends on gene mutation type, personal cancer history, and family cancer history.
Some families have classic LFS. This means family members may get one of the core LFS cancers listed below and may be diagnosed at an earlier age. Other families have non-classic LFS. This means they may develop some of the core LFS cancers or have completely different cancers at older ages.
People with LFS often get one or more of these core LFS cancers:
- Adrenocortical carcinoma
- Bone sarcoma and soft tissue sarcomas
- Brain tumors (especially choroid plexus carcinoma)
- Breast cancer
They may also get these cancers:
- Colon cancer
- Leukemia (especially acute myeloid leukemia)
- Lung cancer
- Pancreatic cancer
- Skin cancers
Genetic Counseling for People with Li-Fraumeni Syndrome
Because risk can vary from family to family, it is important to get personalized care with health care providers who specialize in LFS. Huntsman Cancer Institute (HCI) recommends families at risk of LFS get genetic testing and genetic counseling. Genetic counselors can help find which side of the family is affected with LFS and who in the family has inherited it. Genetic counseling also helps families understand their risks for cancer and how to manage those risks.
Genetic counselors are specifically trained to support patients diagnosed with LFS. Genetic testing can help family members of all ages, including children.
Cancer Screening for People with Li-Fraumeni Syndrome
Many people with LFS choose to get screening for LFS-related cancers. Cancer screening helps find cancer at an early stage, when it is easier to treat. The kind of screening you need depends on your family history of cancer, but the general recommendations are to get screenings of the brain, torso, arms, legs, breasts, and GI tract.
HCI鈥檚 LFS experts can make screening plans for people with LFS. We have a dedicated screening program that includes expertise in MRI surveillance for LFS. HCI offers whole body MRI (WBMRI), a specialized type of MRI that screens for cancers in the torso.
Contact us at 801-587-9555 to find out if you need genetic testing and if you need to be seen in our Pediatric and Rare Tumor Clinic.