Li-Fraumeni Syndrome & Genetic Testing


Li-Fraumeni syndrome (LFS) is a rare hereditary predisposition to multiple cancer types. People with LFS are often diagnosed at younger ages and may have more than one cancer over the course of their lifetime.

People with LFS usually have an inherited mutation in the TP53 gene. People with a first-degree relative (a parent, sibling, or child) with LFS have a 50% chance of having inherited the TP53 mutation. In most families, a mutation in this gene is inherited. In some families, though, it is a new mutation. Since children with LFS have a higher risk of developing cancer, we recommend that families speak with a genetic counselor about testing children who may be at risk for a TP53 mutation.

The cancers most closely associated with LFS are:

These cancers account for about 80% of all LFS tumors. The remaining 20% may include other cancer types, such as:

Researchers are working to establish long-term guidelines for how people with LFS should manage their medical risks. Although people with LFS have a much higher risk of developing cancer, there are screening options available to help detect cancer at an earlier stage. These options may include whole-body MRI and brain MRI exams. Memorial Sloan Kettering has a surveillance program to help children and adults with LFS manage their cancer risk.

For people who have a TP53 mutation, radiation, including radiation from screening tests, may increase the risk of cancer. Because of that, we recommend that people with these mutations minimize their exposure to radiation as well as other known carcinogens, such as tobacco, whenever possible.

We encourage people with TP53 mutations to check in with their doctors frequently to receive updated information regarding LFS-associated cancer risks and management.

Learn more about the Clinical Genetics Service and Pediatric Cancer Predisposition Screening Program at MSK Kids.