Other Names for this Disease
- Li Fraumeni syndrome
- Sarcoma family syndrome of Li and Fraumeni
- SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)
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Approximately 80% of families with the features of Li-Fraumeni Syndrome (LFS) have an identifiable change (mutation) in the TP53 gene. TP53 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in TP53 result in a defective protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in LFS.
Last updated: 5/4/2015
- Katherine Schneider, MPH, Kristin Zelley, MS, Kim E Nichols, MD, and Judy Garber, MD, MPH. Li-Fraumeni Syndrome. GeneReviews. April 2013; http://www.ncbi.nlm.nih.gov/books/NBK1311/.
- Li-Fraumeni syndrome. Genetics Home Reference. January 2007; http://www.ghr.nlm.nih.gov/condition/li-fraumeni-syndrome. Accessed 8/8/2012.