Li-Fraumeni Syndrome Study

Li-Fraumeni syndrome (LFS) is a rare, inherited disorder which leads to a higher risk of developing certain cancers. These cancers tend to occur at younger ages in 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. The diagnosis of LFS is based on an individual’s personal and family history of cancer. Inherited disease-causing changes (also called variants) in a gene called TP53 is currently the only known cause of LFS. About 70% of families with a clinical diagnosis of LFS have these genetic changes.

To efficiently study the medical, genetic, psychological, and social functioning of LFS patients requires studying both individuals who do and individuals who do not have LFS. To establish such a resource, the Clinical Genetics Branch (CGB), part of the National Cancer Institute (NCI) with the National Institutes of Health (NIH), joined with researchers from around the world to form the Li-Fraumeni Exploration (LiFE) Research Consortium. In support of both the LiFE consortium and its own research program, CGB is conducting a detailed study of individuals with LFS and their family members, based at the NIH/NCI in Bethesda, MD.