Clinical and Genetic Studies of Li-Fraumeni Syndrome

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Cancer Institute (NCI)
Study ID
NCT01443468
Status
Recruiting
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Conditions

  • Li-Fraumeni Syndrome
  • Neoplasms
  • Tp53 Mutations

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
Jan 17, 2012
Status verified
Jun 2026

Study Design

Enrollment
5,000 participants (estimated)

Arms

  • Arm: 1
    Patients within a family with a known TP53 mutation who are positive for that mutation.
  • Arm: 2
    Patients within a family with a known TP53 mutation who are negative for that mutation.
  • Arm: 3
    Unaffected family members.
  • Arm: 4
    Patients who meet clinical LFS criteria but haven't had TP53 testing.
  • Arm: 5
    Patients within a family with an negative/unknown TP53 mutation.

Primary Outcome Measure

Prevalence [ Time Frame: ongoing ]

Central Contacts

Locations (2)

FacilityCityStateZIPSite coordinators
National Cancer Institute - Shady GroveBethesdaMaryland20892
Payal Khincha, M.D.
[email protected]
240-276-7267
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact National Cancer Institute Referral Office
888-624-1937

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By research site
National Cancer Institute - Shady Grove· Bethesda, MDNational Institutes of Health Clinical Center· Bethesda, MD

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