Genetic Studies of Families
with Li-Fraumeni Syndrome
Li-Fraumeni Syndrome (LFS) is a rare,
inherited disorder which leads to a higher risk
of certain cancers. These cancers occur at younger
ages in patients with LFS than in the general population.
The constellation of tumors includes bone and soft tissue
cancers, called sarcomas, breast cancer and brain tumors. Doctors
diagnose LFS based on a patient’s personal and family history of cancers.
LFS is caused by heritable changes in a gene called TP53.
LFS is so rare that most researchers cannot find enough families to study the medical problems of people with this disorder. To more efficiently study these problems, the Clinical Genetics Branch (CGB) of the National Cancer Institute (NCI) has joined with researchers from several major North American research institutions to form the North American LFS Consortium. This website is intended to share what is currently known about LFS, and to describe possible research opportunities related to research at NCI and by the North American LFS Research Consortium.
The Li-Fraumeni Syndrome Clinical Research Workshop was held at the National Institutes of Health on November 2, 2010. This workshop was designed to build a research consortium of investigators focused on advancing understanding of LFS and to help families with support and advocacy. The entire workshop was videotaped and can be viewed at http://videocast.nih.gov/summary.asp?Live=9741