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Search / Trial NCT01443468

Clinical and Genetic Studies of Li-Fraumeni Syndrome

Launched by NATIONAL CANCER INSTITUTE (NCI) · Sep 28, 2011

Trial Information

Current as of July 04, 2025

Recruiting

Keywords

Tp53 Cancer Hereditary Genetic Testing Screening

ClinConnect Summary

This clinical trial is focused on studying Li-Fraumeni syndrome (LFS), a genetic condition that increases the risk of developing various cancers, including breast, bone, and brain cancers. Researchers aim to understand more about the specific types of cancers associated with LFS, the role of a gene called TP53 in cancer development, and to investigate whether there are other genetic factors or environmental influences that could affect cancer risk for individuals with this syndrome.

To be eligible for this study, participants should have a family or personal history of cancers linked to LFS, a known TP53 gene mutation, or certain rare cancers. The study involves filling out questionnaires about medical and family histories, providing blood or cheek cell samples for genetic testing, and possibly undergoing cancer screening. Participants will also be monitored over several years to track any changes in health or cancer status. Importantly, pregnant women can still participate in the study for data collection, although some screening procedures will be delayed until after they have given birth.

Gender

ALL

Eligibility 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.

About National Cancer Institute (Nci)

The National Cancer Institute (NCI) is a prominent component of the National Institutes of Health (NIH), dedicated to advancing cancer research and improving patient outcomes through innovative clinical trials. As a leading sponsor of cancer-related studies, NCI focuses on facilitating the development of new therapies, enhancing prevention strategies, and understanding the biology of cancer. The institute collaborates with academic institutions, healthcare providers, and industry partners to conduct rigorous clinical trials that aim to translate scientific discoveries into effective treatments. NCI’s commitment to fostering a robust research environment supports the mission to eliminate cancer as a major health problem.

Locations

Bethesda, Maryland, United States

Bethesda, Maryland, United States

Bethesda, Maryland, United States

Patients applied

0 patients applied

Trial Officials

Payal P Khincha, M.D.

Principal Investigator

National Cancer Institute (NCI)

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

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