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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


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

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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

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Basic Information

  • Genetics Home Reference (GHR) contains information on Li-Fraumeni syndrome. This website is maintained by the National Library of Medicine.
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.  Click on the link to view information on this topic. 

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Li-Fraumeni syndrome. Click on the link to view a sample search on this topic.

Insurance Issues

  • The Social Security Administration (SSA) created the Compassionate Allowance Initiative to speed up the processing of disability claims for applicants with certain conditions. Click on the link to view the Compassionate Allowance information for adrenal cancer, a cancer associated with this condition. More information about applying for Social Security disability benefits is available online.
    Link: https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022090