Other Names for this Disease
- Sarcoma family syndrome of Li and Fraumeni
- SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)
- Li Fraumeni syndrome
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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. It is caused by changes (mutations) in the TP53 gene and is inherited in an autosomal dominant manner. Management may include high-risk cancer screening and/or prophylactic surgeries.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
Last updated: 5/4/2015
- 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/.
- Katharine E Brock, MD. Li-Fraumeni Syndrome. Medscape Reference. October 2013; http://emedicine.medscape.com/article/987356-overview.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.