Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome
National Cancer Institute (NCI)
Summary
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.
Description
Study Description: 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). Objectives: Primary Objectives: * To ascertain/enroll individuals and families with Li-Fraumeni Syndrome (LF…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- Yes
* INCLUSION CRITERIA: * On referral, persons of all ages will be considered for inclusion in the study because of either: * 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, * A personal history of three or more LFS-related primary cancers; or, * A personal history of adrenal cortical carcinoma or choroid plexus carcinoma at any age, regardless of family history Personal and family medical…
Locations (2)
- National Cancer Institute - Shady GroveBethesda, Maryland
- National Institutes of Health Clinical CenterBethesda, Maryland