Clinical and Genetic Studies of Li-Fraumeni Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorNational Cancer Institute (NCI)
About this trial
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.
Eligibility criteria
Qualifiers
On referral, persons of all ages will be considered for inclusion in the study
A family or personal medical history of neoplasia consistent with the diagnosis of LFS or LFL; or,
A personal history of a germline TP53 mutation; or,
A first- or second- degree relative of a TP53 mutation carrier, regardless of mutation status; or,
Disqualifiers
Referred individuals and families whose reported diagnoses cannot be verified
Medical or psychiatric disorder which, in the opinion of the Principal Investigator, would preclude the ability to participate in clinical research
Women who are pregnant will not be eligible for the cancer screening protocol until they recover post-partum. Women participating in the cancer screening protocol will discontinue this component if they become pregnant while on study. Once they recover post-partum, they can continue the cancer screening protocol.
Trial design
Treatments tested in this trial
- Not listed
Trial groups
5,000 Participants
are grouped into 5 trial groupsLocations
2National Cancer Institute - Shady Grove20892, BethesdaMaryland, United States
National Institutes of Health Clinical Center20892, BethesdaMaryland, United States
Sponsors and collaborators
National Cancer Institute (NCI)
Lead sponsor
Source ClinicalTrials.gov