Li-Fraumeni syndrome
Li-Fraumeni syndrome is a condition that is most often associated with mutations in the p53 gene. The p53 gene is a tumor suppressor gene, meaning that when it is working properly, it encodes for a protein that helps to prevent cancer from forming. If that gene is altered in an individual’s cells, an increased risk for developing cancer exists.
An individual who carries an altered p53 gene has approximately a 90% lifetime risk for developing cancer and the risk for cancer increases with age. Li Fraumeni syndrome is a rare autosomal dominant syndrome characterized by early onset tumors that include breast cancer, bone and soft tissue sarcomas, brain cancer and brain tumors, leukemia, and childhood adrenocortical tumors. Increased risks for many other cancers also exist. Li Fraumeni is a rare cancer syndrome.
The majority of mutations in the p53 gene can be identified by sequence analysis. In some families, however, the disease causing mutation cannot be identified.
