Li-Fraumeni Syndrome Study Group
Li-Fraumeni syndrome (LFS) is an inherited genetic condition, meaning that it can be passed to an individual from their parents. Individuals with LFS are at increased risk for several different types of cancer throughout their life, which are usually diagnosed at an age much younger than the general population.
The most common types of cancers associated with LFS are:
Other cancers that have been reported in people diagnosed with LFS are leukemia, lung cancer, colon cancer, melanoma and many other tumors commonly found in the general population. LFS affects both males and females and it has been reported in patients of different ethnic groups. Changes (mutation) in a gene called TP53 are the only known cause of LFS. Mutations in this gene allow for uncontrolled cell growth, which leads to tumor formation.
- To determine the clinical implications of having an inherited change (mutation) in the TP53 gene and to better characterize the cancer risk for carriers of these mutations.
- To explore the psychosocial and ethical issues related to being diagnosed with LFS or being part of a family where p53 gene identified, as well as investigate the attitudes towards testing at-risk minors for inherited p53 mutations.
- To describe novel gene/s that can predispose to LFS in individuals and families that do not carry a TP53 gene mutation and to identify additional genetic factors (risk modifiers) that can affect the risk of cancer in individuals who have TP53 mutations
Meet the team
We are a group of health care professionals who have had a longstanding interest in childhood cancers and rare hereditary syndromes, with Li-Fraumeni syndrome being a major focus. This is not a diagnostic, but an ongoing long-term study that was initiated by Louise Strong, M.D. (PI) more than 30 years ago. Today, this study comprises one of the larger collection of families with LFS in the world. The observations and data collected from our research participants contributed to the seminal finding that inherited mutations in the TP53 gene cause LFS.