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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Li-Fraumeni syndrome

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Other Names for this Disease
  • LFS1
  • Li Fraumeni syndrome
  • Sarcoma family syndrome of Li and Fraumeni
  • SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)
Related Diseases
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Cause

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What causes Li-Fraumeni syndrome?

Approximately 80% of families with the features of Li-Fraumeni Syndrome (LFS) have an identifiable change (mutation) in the TP53 gene.[1] 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.[2]
Last updated: 5/4/2015

References
  1. 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/.
  2. Li-Fraumeni syndrome. Genetics Home Reference. January 2007; http://www.ghr.nlm.nih.gov/condition/li-fraumeni-syndrome. Accessed 8/8/2012.


Other Names for this Disease
  • LFS1
  • Li Fraumeni syndrome
  • Sarcoma family syndrome of Li and Fraumeni
  • SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.