Clinical and Genetic Studies of Li-Fraumeni Syndrome
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|ClinicalTrials.gov Identifier: NCT01443468|
Recruitment Status : Recruiting
First Posted : September 29, 2011
Last Update Posted : July 29, 2022
- 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.
- 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.
- 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).
- 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.
|Condition or disease|
|Li-Fraumeni Syndrome Neoplasms Tp53 Mutations|
This is a natural history study involving questionnaires, clinical and research evaluations, clinical and research laboratory tests, review of
medical records, and cancer surveillance. This is a prospective long-term study of individuals at high risk of cancer due to Li-Fraumeni Syndrome (LFS) or Li-Fraumeni-Like Syndrome (LFL), using a cohort approach. Enrollees are invited to participate in all aspects of the study but can choose to opt out of specific part(s).
- To ascertain/enroll individuals and families with Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-Like Syndrome (LFL)
- To evaluation and define the clinical spectrum and natural history of disease in LFS and LFL
- To quantify cumulative cancer risk in individuals with LFS or LFL
- To develop a cancer screening program for individuals with LFS or LFL
- To investigate the mechanisms of tumorigenesis in LFS-related tumors (e.g., cell proliferation, growth regulation, apoptosis)
- To identify genetic determinants, environmental factors, and gene-environment interactions that potentially modify cancer risk in
these high-risk individuals
- To evaluate the psychological, behavioral, and social functioning effects of LFS on affected individuals and their family members
- To explore the plausibility of lifestyle interventions as potential strategies for cancer risk reduction
- To create an annotated biospecimen repository of LFS-related for translational, etiologic, and outcomes research
-To evaluate specific tumor characteristics, including histologies (e.g., leukemia types, brain tumor types, etc.) of cancers
diagnosed in individuals with LFS or LFL.
-To evaluate the potential effect of therapeutic radiation and radiation exposure from diagnostic/screening imaging studies on
- To provide education, cancer risk assessment, and risk management recommendations for study participants.
- To collect clinical data related to the treatment of LFS-related cancers, so that outcome and survival may be evaluated.
Endpoints: Primary Endpoint:
-Occurrence of cancer in individuals and families with LFS or LFL
|Study Type :||Observational|
|Estimated Enrollment :||5000 participants|
|Official Title:||Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome|
|Actual Study Start Date :||January 17, 2012|
Patients within a family with a known TP53 mutation who are positive for that mutation.
Patients within a family with a known TP53 mutation who are negative for that mutation.
Unaffected family members.
Patients who meet clinical LFS criteria but haven't had TP53 testing.
Patients within a family with an negative/unknown TP53 mutation.
- Prevalence [ Time Frame: ongoing ]Learn more about the types of cancers that occur in individuals with LFS and the age at which these cancers are usually found
- Multiple measures [ Time Frame: ongoing ]Explore ways to lower cancer risk
- Multiple measures [ Time Frame: ongoing ]Explore the typical features of the cancers diagnosed in individuals with LFS
- Multiple measures [ Time Frame: ongoing ]Explore the psychological and social functioning issues faced by LFS families
- Multiple measures [ Time Frame: ongoing ]Explore the best ways to look for cancers early in individuals with LFS
- Multiple measures [ Time Frame: ongoing ]Determine if there is any connection between specific mutations in the TP53 gene and the risk of certain type of cancers
- Multiple measures [ Time Frame: ongoing ]Determine if there are any environmental factors or other genes that can change a person's cancer risk associated with LFS
- Multiple measures [ Time Frame: ongoing ]Determine how often a change (mutation) in the TP53 gene is found in families in which LFS is suspected
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01443468
|Contact: Stephanie M Steinbart, R.N.||(800) firstname.lastname@example.org|
|Contact: Payal P Khincha, M.D.||(240) email@example.com|
|United States, Maryland|
|National Cancer Institute - Shady Grove||Recruiting|
|Bethesda, Maryland, United States, 20892|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office (888) NCI-1937|
|Principal Investigator:||Payal P Khincha, M.D.||National Cancer Institute (NCI)|