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Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • LFS1
  • Sarcoma family syndrome of Li and Fraumeni
  • SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)
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What causes Li-Fraumeni syndrome?

Li-Fraumeni syndrome is associated with mutations in the TP53 gene. More than 70% of individuals diagnosed clinically have an identifiable mutation in the TP53 gene.[1] TP53 is a tumor suppressor gene, which means that it normally helps to prevent too much cell growth, thus suppressing the development of cancer (in which cells grow too fast). Mutations in the TP53 gene can stop the gene from functioning properly, which allows cells to excessively divide and form tumors.[2]

A few families with Li-Fraumeni syndrome or Li-Fraumeni-like syndrome (a similar condition in which different patterns of specific cancers occur in affected family members) and no identifiable TP53 mutation were initially reported to have mutations in the CHEK2 gene. However, more recent analyses determined that CHEK2 is not a major underlying cause of either of these syndromes.[1]
Last updated: 8/8/2012

  1. Schneider K, Garber J. Li-Fraumeni syndrome. GeneReviews. February 9, 2010; Accessed 8/8/2012.
  2. Li-Fraumeni syndrome. Genetics Home Reference. January 2007; Accessed 8/8/2012.