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Li-Fraumeni Syndrome Study

Our 2014 Study Newsletter is available. Learn more about our newly added research objectives.

Read our Newsletter

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 patients 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 cancers. Heritable disease-causing changes in a gene called TP53 is currently the only known cause of LFS and is identified in about 70% of families with a clinical diagnosis of LFS.

In order to more efficiently study the medical, genetic, psychological, and social functioning issues associated with LFS, the Clinical Genetics Branch (CGB) of the National Cancer Institute (NCI) joined with researchers from around the world to form the Li-Fraumeni Exploration (LiFE) Research Consortium.  The most pressing research questions related to LFS require assembling information from multiple research institutions, in order to have the large number of affected and unaffected family members required for research of this kind. In support of both the LiFE consortium and its own research program, CGB is also conducting a detailed study (based at the National Institutes of Health/National Cancer Institute in Bethesda, MD) of individuals with LFS and their family members.

Research Highlights

CGB has just launched a pilot study targeting Physical Activity and Diet (PAD) in LFS families. This is a first step towards determining whether it is feasible, practical, to collect data of this kind from our study participants. The long-range goal of this effort is to determine whether there might be opportunities to attempt modification of these important lifestyle variables, with an eye towards reducing cancer risk and improving overall health and well-being in LFS families. A random sample of LFS study participants will be invited to participate, by providing information about their daily diet and physical activity using a web-based data collection tool. If you have questions about this effort, please do not hesitate to contact us.