Understanding Li-Fraumeni Syndrome and its Cancer Risks
Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome
This study looks at people with Li-Fraumeni Syndrome to see what causes their cancer risk and how it affects their families, while also working on a cancer screening program.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Drugs / interventions | radiation |
| Locations | 2 sites (Bethesda, Maryland and 1 other locations) |
| Trial ID | NCT01443468 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on individuals with Li-Fraumeni Syndrome (LFS) and aims to explore the genetic and environmental factors that contribute to cancer risk. Researchers will collect data through questionnaires, clinical evaluations, and laboratory tests to assess the clinical spectrum of LFS and identify potential genetic causes beyond the known TP53 mutations. The study also seeks to develop a cancer screening program and evaluate the psychological impact of LFS on affected families. Participants can choose which aspects of the study they wish to engage in.
Who should consider this trial
Good fit: Ideal candidates include individuals with a personal or family history of cancers associated with Li-Fraumeni Syndrome or those with known TP53 mutations.
Not a fit: Patients without a family or personal history of cancers related to Li-Fraumeni Syndrome may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved cancer screening and prevention strategies for individuals with Li-Fraumeni Syndrome.
How similar studies have performed: While there have been studies on Li-Fraumeni Syndrome, this study's comprehensive approach to understanding genetic and environmental factors is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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 history must be verified through questionnaires, interviews, review of medical records and/or review of pathology slides. There are 72 families who have previously enrolled in the pilot study under protocol 78-C-0039. As the eligibility criteria remain the same, these families will be eligible for this protocol and will be invited to sign the new consent. -Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document. For both the Field and Clinical Center Cohort, the PI will ensure that study investigators will identify an appropriate LAR consistent with requirements of Policy 403 and will obtain consent from the LAR as outlined in the consent process before initiating research interventions. -Pregnant women In order to study the lifetime rates of cancer development in all individuals with Li-Fraumeni syndrome, we will need to evaluate what effect pregnancy may have on rate of cancer development both in affected individuals and unaffected family controls. Additionally, some cancers are known to have an increased risk of development in the context of pregnancy and lactation. Exclusion of pregnant women would preclude understanding of these cancer risks for an important subset of the population. Pregnant women are eligible for enrollment on the data collection component of this study. Pregnant women will be included in this study as several endpoints may be assessed during pregnancy; counseling, education, and other minimal risk procedures (i.e. blood draw) may be done. We will postpone full clinical evaluations at the Clinical Center of pregnant women until the subject has recovered post-partum. All screening studies, for women who are pregnant, or breastfeeding will be deferred while the woman is pregnant or breastfeeding. Pregnancy testing will be performed for females of childbearing age prior to imaging studies, and the test results must be negative prior to the scan.. The risk to the fetus and pregnant woman would be no greater than minimal for procedures that are performed. EXCLUSION CRITERIA: * 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.
Where this trial is running
Bethesda, Maryland and 1 other locations
- National Cancer Institute - Shady Grove — Bethesda, Maryland, United States (Recruiting)
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Payal P Khincha, M.D. — National Cancer Institute (NCI)
- Study coordinator: NCI Family Study Referrals
- Email: ncifamilystudyreferrals@mail.nih.gov
- Phone: (800) 518-8474
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.