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Study identifier: NCT01443468 Synced from ClinicalTrials.gov · July 29, 2026
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Clinical and Genetic Studies of Li-Fraumeni Syndrome

Condition: Li-Fraumeni Syndrome · Neoplasms · Tp53 Mutations  ·  Sponsor: National Cancer Institute (NCI)

PhaseN/A
Planned participants5000
Who can joinAll sexes, N/A to no upper limit
Healthy volunteersYes

About this study

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.…

This description comes directly from the study's public registry record.

Talk to the study team

NCI Family Study Referrals  ·  (800) 518-8474  ·  ncifamilystudyreferrals@mail.nih.gov

Payal P Khincha, M.D.  ·  (240) 276-7267  ·  payal.khincha@nih.gov

Always discuss trial participation with your own doctor first.

Locations (2)

National Cancer Institute - Shady GroveBethesda, Maryland, United StatesRecruiting
National Institutes of Health Clinical CenterBethesda, Maryland, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT01443468