Clinical and Genetic Studies of Li-Fraumeni Syndrome
Public ClinicalTrials.gov record NCT01443468. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT01443468
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 5,000 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- Not listed
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Jan 16, 2012
- Primary completion
- Not listed
- Completion
- Not listed
- Last update posted
- Aug 20, 2026
Started 2012
United States locations
- U.S. sites
- 2
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Cancer Institute - Shady Grove | Bethesda | Maryland | 20892 | Recruiting |
| National Institutes of Health Clinical Center | Bethesda | Maryland | 20892 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT01443468, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Aug 20, 2026 · Synced Sep 2, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT01443468 live on ClinicalTrials.gov.