Li-Fraumeni Syndrome Research Study

Li-Fraumeni syndrome (LFS) is a rare inherited disorder that leads to a higher risk of developing cancers. These cancers often occur at younger ages among individuals with LFS than in the general population. The types of tumors most frequently seen in LFS include bone and soft tissue cancers (called sarcomas), breast cancer, brain tumors, and cancer of the adrenal gland. Other cancer risks are also increased. The diagnosis of LFS is based on an individual’s personal and family history of cancer. Harmful changes (also called variants or mutations) in a gene called TP53 are currently the only known cause of LFS. About 70% of families with a clinical diagnosis of LFS have a genetic change in the TP53 gene.

We are actively recruiting new individuals and families to join our study. Individuals or families may be referred by their healthcare provider or may refer themselves. Families participating in our study will help improve our understanding of LFS.