RECRUITING

Clinical and Genetic Studies of Li-Fraumeni Syndrome

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome

Quick Facts

Study Start:2012-01-17
Study Completion:N/A
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01443468

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * On referral, persons of all ages will be considered for inclusion in the study
  2. * A family or personal medical history of neoplasia consistent with the diagnosis of LFS or LFL; or,
  3. * A personal history of a germline TP53 mutation; or,
  4. * A first- or second- degree relative of a TP53 mutation carrier, regardless of mutation status; or,
  5. * A personal history of three or more LFS-related primary cancers; or,
  6. * A personal history of adrenal cortical carcinoma or choroid plexus carcinoma at any age, regardless of family history
  1. * Referred individuals and families whose reported diagnoses cannot be verified
  2. * Medical or psychiatric disorder which, in the opinion of the Principal Investigator, would preclude the ability to participate in clinical research
  3. * 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.

Contacts and Locations

Study Contact

NCI Family Study Referrals
CONTACT
(800) 518-8474
ncifamilystudyreferrals@mail.nih.gov
Payal P Khincha, M.D.
CONTACT
(240) 276-7267
payal.khincha@nih.gov

Principal Investigator

Payal P Khincha, M.D.
PRINCIPAL_INVESTIGATOR
National Cancer Institute (NCI)

Study Locations (Sites)

National Cancer Institute - Shady Grove
Bethesda, Maryland, 20892
United States
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Cancer Institute (NCI)

  • Payal P Khincha, M.D., PRINCIPAL_INVESTIGATOR, National Cancer Institute (NCI)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2012-01-17
Study Completion DateN/A

Study Record Updates

Study Start Date2012-01-17
Study Completion DateN/A

Terms related to this study

Keywords Provided by Researchers

  • Tp53
  • Cancer
  • Hereditary
  • Genetic Testing
  • Screening

Additional Relevant MeSH Terms

  • Li-Fraumeni Syndrome
  • Neoplasms
  • Tp53 Mutations