What is Li-Fraumeni syndrome?
Li-Fraumeni syndrome (LFS) is a hereditary condition that is often associated with a pathogenic or likely pathogenic variant (mutation) in the TP53 gene (TP53 positive genetic test result or TP53+ result). People with LFS have greatly increased risks of various cancers over their lifetimes. Some people have a TP53+ result identified in their genetic testing, but their personal and family cancer histories do not look like typical LFS. Traditionally, people with TP53+ results were thought to have a diagnosis of LFS, however, more recent evidence has shown that not all people with TP53+ results have LFS.
She's raising LFS awareness by sharing her story with the world and participating in research studies aimed at finding better ways to diagnose cancer early.
How we care for Li-Fraumeni syndrome
The high cancer risks seen with LFS and often with other TP53+ results make it important for children, adolescents, and adults to be cared for by medical providers who are experts in LFS and TP53+ results. Dana-Farber's Li-Fraumeni Syndrome and TP53 Center is the first comprehensive multi-disciplinary center in the world that specializes in coordinating the care of people with LFS and TP53+ results, as well as provides psychological and social support for patients and their families.
Learn more about Li-Fraumeni syndrome and our TP53 Center on the Dana-Farber Cancer Institute website.