Li-Fraumeni Syndrome Association
Cycle 1
Li-Fraumeni Syndrome (LFS) is an inherited predisposition to a wide range of certain cancers caused by pathogenic TP53 germline variants. Both children and adults are susceptible to developing multiple cancers, most notably soft-tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma and leukemia. Other cancers seen in LFS patients include gastrointestinal cancers and cancers of the lung, kidney, thyroid, skin, and prostate, among others.
Last updated May 2024
Clinical
Disease Class
Rare genetic diseases
Rare neoplastic diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Muscular / Skeletal
Nervous / Sensory
Reproductive
Respiratory
Organs
Blood
Brain
Connective tissue / joints
Ductus deferens
Fallopian tubes
Intestines
Kidneys
Lungs
Ovaries
Pancreas
Penis
Prostate gland
Scrotum
Skin
Stomach
Testes
Thyroid
Uterus
Genes
TP53
Type of Inheritance
De novo
Disease Mechanism(s)
Pathogenic mutation
Age of Onset
Prebirth
Incidence
Unknown
Prevalence
1001-10000
Populations and/or ancestry with higher prevalence
Brazil
Symptoms / Phenotypes
cancer / carcinoma / tumor / malignancy, unspecified
cancer, adrenocortical carcinoma
cancer, brain tumor
cancer, breast
cancer, leukemia
Biomarkers
None
Existing Therapies
None
Organizational & Research
Cell Lines
Cancer/tumor cells
Cell Lines, location
Not specified
Cell Lines, share
Unknown
Disease Model
Mouse
Zebrafish
Disease Model, location
Not specified
Disease Model, share
No
Clinical Trial Role
Data sharing
Focus group
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Results dissemination, publication
Study material design, review (not protocol)
Biobank
None
Center of Excellence
Aflac Cancer and Blood Disorders Center
Aurora Health Care – Wisconsin
Baylor College of Medicine
Children's Hospital of Colorado
Children's Hospital of Michigan
Children's National Hospital
Children’s Hospital of Philadelphia (CHOP)
Cincinnati Children's Hospital
City of Hope National Medical Center
Dana-Farber Cancer Institute
Duke University
Garvan Institute – Kinghorn Cancer Centre and Cancer Division
George Washington University
Hospital A. C. Camargo – Fundação Antonio Prudente
Hospital for Sick Children
Huntsman Cancer Institute
Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS)
Manchester Centre for Genomic Medicine
Massachusetts General Hospital
Medizinische Hochschule Hannover
Memorial Sloan Kettering Cancer Center
Moffitt Cancer Center
National Cancer Institute (NCI)
Nationwide Childrens Hospital
Netherlands Cancer Institute
Novant Health Presbyterian Medical Center
Peter MacCallum Cancer Center
Peyton Manning Children’s Hospital
Seattle Children's Hospital
Sheba Medical Center
St. Jude Children’s Research Hospital
Stanford University
The Ohio State University (OSU)
The University of Texas MD Anderson Cancer Center
University of Michigan
University of Minnesota
University of Pennsylvania (PENN)
University of Virginia (UVA)
Universitätsklinikum Bonn
Universitätsklinikum Heidelberg und Deutsches Krebsforschungszentrum
Universitätsklinikum Tübingen
Universitätsklinikum Ulm
Washington University
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Clinical data
Electronic health records/electronic medical records
Genetic data
Imaging data
Longitudinal natural history data
Medication usage
Patient-reported data
Data Entered by, Registry
Both
Platform, Registry
Not specified
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Imaging data
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
Not specified
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We use an ICD-10 code capturing the family of diseases to which our disease belongs
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
Yes
Organizational Roles
No full-time staff
Science Advisory Board Policies
No policies
Research Network Policies
Has CRN but no policies
Research Roadmap
We don't have a Research Roadmap
International Chapters
Africa
Asia
Europe
Middle East
North America
Oceania
South America
International Partners
Africa
Asia
Europe
Middle East
North America
Oceania
South America