National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Li-Fraumeni syndrome

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Other Names:
Sarcoma family syndrome of Li and Fraumeni; SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland); LFS1; Sarcoma family syndrome of Li and Fraumeni; SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland); LFS1; Li Fraumeni syndrome See More
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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: 5/4/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Breast carcinoma
Breast cancer
0003002
Lymphoma
Cancer of lymphatic system
0002665
Neoplasm of the adrenal cortex 0100641
Neoplasm of the colon
Colon tumor
0100273
Neoplasm of the nervous system
Tumor of the nervous system
0004375
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor
[ more ] 		0002894
Neoplasm of the skin
Skin tumors
Tumor of the skin
[ more ] 		0008069
Osteosarcoma
Bone cell cancer
0002669
Progressive encephalopathy 0002448
5%-29% of people have these symptoms
Melanoma 0002861
Percent of people who have these symptoms is not available through HPO
Acute leukemia 0002488
Adrenocortical carcinoma 0006744
Autosomal dominant inheritance 0000006
Choriocarcinoma 0100768
Colon cancer 0003003
Lung adenocarcinoma 0030078
Nephroblastoma 0002667
Prostate cancer 0012125
Soft tissue sarcoma 0030448
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Last updated: 7/1/2020
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.[4]
Last updated: 5/4/2015
Li-Fraumeni syndrome (LFS) is inherited in an autosomal dominant manner.[1] This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have LFS. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. A person with LFS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Last updated: 5/4/2015

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include hereditary breast and ovarian cancer syndrome and constitutional mismatch repair deficiency syndrome (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Li-Fraumeni syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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; https://www.nccn.org/about/news/ebulletin/ebulletindetail.aspx?ebulletinid=294.
  4. Li-Fraumeni syndrome. Genetics Home Reference. January 2007; http://www.ghr.nlm.nih.gov/condition/li-fraumeni-syndrome. Accessed 8/8/2012.