Li-Fraumeni Syndrome

Li-Fraumeni syndrome (LFS) is a rare disorder caused by mutations in the TP53 gene.

Individuals with LFS are more likely to develop multiple types of cancers, particularly before the age of 45. These include brain cancer, breast cancer, muscle and connective tissue cancers, adrenocortical carcinoma, lung cancer, and leukemias.

Their lifetime risk to develop cancer is 85 to 90 percent, and they are at increased risk to develop second, third, and fourth cancers.

After an individual is diagnosed with LFS, the risk for cancers and tumors can be reduced. For example, the risk for breast cancer can be greatly reduced in individuals who are known to have LFS.

Our cancer genetic counselors can determine whether you have LFS. Sometimes genetic testing is helpful in making this determination. If a genetic mutation can be found, it is possible to test other family members to see if they also have LFS. Each child of an individual with LFS has a 50 percent chance of also having the condition.