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Diseases

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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Overview



What is Li-Fraumeni syndrome?

What causes Li-Fraumeni syndrome?

How is Li-Fraumeni syndrome inherited?


What is Li-Fraumeni syndrome?

Li-Fraumeni syndrome is a condition that greatly increases a person's likelihood of developing cancer, particularly at an unusually young age. Affected individuals also have an increased likelihood to develop more than one cancer during the lifetime. Cancers most often associated with Li-Fraumeni syndrome include sarcomas (cancers of muscle, bone or connective tissue), breast cancer, brain tumors, and cancer of the adrenal gland (adrenocortical carcinoma), though there may be an increased risk to develop other types of cancer as well. This condition is caused by mutations in the TP53 gene and is inherited in an autosomal dominant manner.[1]
Last updated: 1/17/2013

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

How is Li-Fraumeni syndrome inherited?

Li-Fraumeni syndrome is inherited in an autosomal dominant manner. This means that only one mutated copy of the disease-causing gene in each cell is sufficient to increase the risk of developing cancer. The mutated gene may be inherited from an affected parent or may occur for the first time in the affected individual (a de novo mutation). The proportion of individuals with a de novo mutation is unknown.[1] To our knowledge there is no evidence that environmental exposures increase a person's risk to be born with Li-Fraumeni syndrome.

Each child of an individual with an autosomal dominant condition has a 50% (1 in 2) chance to inherit the mutated gene. If the child of an affected parent does not inherit the mutated gene, that child cannot pass the mutated gene on to offspring.
Last updated: 8/8/2012

References
  1. Schneider K, Garber J. Li-Fraumeni syndrome. GeneReviews. February 9, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1311/. Accessed 8/8/2012.
  2. Li-Fraumeni syndrome. Genetics Home Reference. January 2007; http://www.ghr.nlm.nih.gov/condition/li-fraumeni-syndrome. Accessed 8/8/2012.