Overview
Li-Fraumeni syndrome (LFS), also known as SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland cancer syndrome), is a rare hereditary cancer predisposition disorder caused by germline pathogenic variants in the TP53 tumor suppressor gene located on chromosome 17p13.1. The TP53 gene encodes the p53 protein, often called the 'guardian of the genome,' which plays a critical role in regulating cell division, DNA repair, and programmed cell death (apoptosis). When this gene is dysfunctional, cells with damaged DNA can proliferate unchecked, dramatically increasing the risk of developing multiple types of cancer throughout life. Li-Fraumeni syndrome affects multiple body systems and is characterized by an exceptionally high lifetime cancer risk, estimated at approximately 70% in males and nearly 100% in females. The core spectrum of cancers includes soft tissue sarcomas, osteosarcomas, premenopausal breast cancer, brain tumors (particularly gliomas and choroid plexus carcinomas), adrenocortical carcinomas, and acute leukemia. However, individuals with LFS may develop virtually any type of cancer. A hallmark feature is the early age of onset — many affected individuals develop their first cancer in childhood or young adulthood — and there is a significantly elevated risk of developing multiple primary cancers over a lifetime. Adrenocortical carcinoma in childhood is particularly suggestive of this syndrome. There is currently no cure for Li-Fraumeni syndrome. Management focuses on intensive cancer surveillance protocols, often referred to as the 'Toronto Protocol,' which include whole-body MRI, brain MRI, breast MRI, abdominal and pelvic ultrasound, and regular blood work to detect cancers at the earliest possible stage. Radiation therapy is generally avoided or minimized when possible due to the increased risk of radiation-induced secondary malignancies in individuals with TP53 mutations. Genetic counseling is essential for affected families. Risk-reducing mastectomy may be considered for women with LFS given the very high breast cancer risk. Research into targeted therapies and chemoprevention strategies is ongoing.
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsNational Cancer Institute (NCI)
Sir Mortimer B. Davis - Jewish General Hospital
University Health Network, Toronto
Royal Marsden NHS Foundation Trust — NA
Yang Li — PHASE2
M.D. Anderson Cancer Center
Dana-Farber Cancer Institute
Istituto Ortopedico Rizzoli
The Hospital for Sick Children — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Li-Fraumeni syndrome.
9 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersNational Institutes of Health Clinical Center
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
👤 Christopher Grunseich, M.D.
National Cancer Institute - Shady Grove
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Li-Fraumeni syndrome.
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Common questions about Li-Fraumeni syndrome
What is Li-Fraumeni syndrome?
Li-Fraumeni syndrome (LFS), also known as SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland cancer syndrome), is a rare hereditary cancer predisposition disorder caused by germline pathogenic variants in the TP53 tumor suppressor gene located on chromosome 17p13.1. The TP53 gene encodes the p53 protein, often called the 'guardian of the genome,' which plays a critical role in regulating cell division, DNA repair, and programmed cell death (apoptosis). When this gene is dysfunctional, cells with damaged DNA can proliferate unchecked, dramatically increasing the risk of developing mult
How is Li-Fraumeni syndrome inherited?
Li-Fraumeni syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Li-Fraumeni syndrome?
Yes — 9 recruiting clinical trials are currently listed for Li-Fraumeni syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Li-Fraumeni syndrome?
16 specialists and care centers treating Li-Fraumeni syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.