Actively Recruiting
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Led by National Cancer Institute (NCI) · Updated on 2026-05-01
5000
Participants Needed
2
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: \- Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain. It may also increase the risk for certain types of leukemia and other cancers. The only known cause of LFS is a change (called a mutation ) in a gene known as TP53. However, not all people with LFS have a TP53 mutation. Researchers want to study other possible genetic causes of LFS, and factors that may increase or decrease cancer risk in people with the syndrome. Objectives: * To learn more about the types of cancers that occur in individuals with LFS. * To study the role of the TP53 gene in the development of cancer. * To look for other possible genes that cause LFS * To study the effect of LFS diagnosis on families. * To determine if environmental factors or other genes can change a person s cancer risk associated with LFS. Eligibility: * Individuals with a family or personal medical history of cancers consistent with LFS. * Individuals with a family or personal medical history of cancers that does not meet the diagnosis of LFS, but the history is suggestive for LFS (meets the diagnosis for the so-called Li-Fraumeni like syndrome) * Individuals with certain rare cancers * Individuals with a family or personal history of a TP53 gene mutation, with or without related cancer(s). Design: * Participants will fill out a medical history questionnaire and a family history questionnaire. * Blood samples will be collected for DNA and for storage. Cheek cell samples may be collected if blood cannot be obtained for DNA. Participants can choose to have or not have cancer screening with blood tests, imaging studies, and other exams. * Participants will complete questionnaires about their worries about cancer, stress levels, and coping strategies. Diet and physical activity questionnaires will also be given. Other psychological tests may be given as needed. * Participants will be monitored for several years, with regular followup visits to the National Institutes of Health, if indicated. Any changes in health or cancer status will be recorded.
CONDITIONS
Official Title
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Persons of all ages referred due to a family or personal history of cancers consistent with Li-Fraumeni Syndrome or Li-Fraumeni-Like Syndrome
- Personal history of a germline TP53 mutation
- First- or second-degree relative of a TP53 mutation carrier
- Personal history of three or more LFS-related primary cancers
- Personal history of adrenal cortical carcinoma or choroid plexus carcinoma at any age
- Ability to understand and willingness to sign informed consent
- Pregnant women eligible for data collection but full clinical evaluations postponed until postpartum
You will not qualify if you...
- Individuals whose reported diagnoses cannot be verified
- Medical or psychiatric disorders preventing participation in clinical research
- Pregnant women not eligible for cancer screening protocol until postpartum recovery
- Women who become pregnant during cancer screening must stop that component until postpartum recovery
AI-Screening
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Trial Site Locations
Total: 2 locations
1
National Cancer Institute - Shady Grove
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
N
NCI Family Study Referrals
CONTACT
P
Payal P Khincha, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
5
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