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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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Overview

Li-Fraumeni syndrome (LFS) is an inherited condition that is characterized by an increased risk for certain types of cancer. Affected people often develop cancer at an earlier age than expected and may be diagnosed with more than one cancer during their lifetime. LFS is primarily associated with sarcomas (cancers of muscle, bone or connective tissue), breast cancer, brain tumors, leukemia and adrenocortical carcinoma; however, many other types of cancer have been reported in people with this condition.[1][2] It is caused by changes (mutations) in the TP53 gene and is inherited in an autosomal dominant manner.[1] Management may include high risk cancer screening and/or prophylactic surgeries.[1][3]
Last updated: 3/10/2015

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. Katharine E Brock, MD. Li-Fraumeni Syndrome. Medscape Reference. October 2013; http://emedicine.medscape.com/article/987356-overview.
  3. Genetic Familial High-Risk Assessment: Colorectal Panel Members. Genetic Familial High-Risk Assessment: Colorectal. NCCN Clinical Practice Guidelines in Oncology. February 2014; Accessed 1/14/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. 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.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
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.