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Observational Study of Li-Fraumeni Syndrome

This study is looking to understand more about Li-Fraumeni Syndrome (LFS), a genetic condition that increases cancer risk. Researchers want to learn about the types of cancers that occur in people with LFS and how the TP53 gene (a gene linked to LFS) affects cancer development. They are also looking for other genetic causes of LFS and factors that might change cancer risk. You can join if you have a family or personal history of cancer consistent with LFS, a personal history of a TP53 gene mutation, or are a close relative of someone with a TP53 mutation. The study aims to define the disease, quantify cancer risk, and develop screening programs. The study is ongoing and plans to enroll 5000 people.

Study design
This is an observational study, meaning researchers will collect information without giving any specific treatments. It is a long-term study planning to enroll 5000 participants.
What's involved
You would participate in questionnaires, clinical and research evaluations, and laboratory tests. Your medical records would also be reviewed, and you would undergo cancer surveillance.
Compensation
Not stated in the trial record.
Follow-up
The study involves ongoing measurements for prevalence and multiple other factors.

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NCT01443468

Clinical and Genetic Studies of Li-Fraumeni Syndrome

Recruiting
Not specifiedAll AgesObservational
National Cancer Institute (NCI)
~5,000 participants
Updated 2026-08-21 on ClinicalTrials.gov

At a glance

Recruiting sites
2 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Prevalence
Measured over ongoing
+7 more outcomes measured

Conditions

Li-Fraumeni Syndrome
Neoplasms
Tp53 Mutations

Explore related trials

Adrenal Cortical CarcinomaChoroid Plexus CarcinomaLi-Fraumeni SyndromeNeoplasm

Where it's being run

2 sites across 1 states
Maryland2

Study leadership

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

Who to contact

NCI Family Study Referrals
[email protected]
(800) 518-8474
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

On referral, persons of all ages will be considered for inclusion in the study
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
Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.
Pregnant women

Exclusion

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.

What this trial measures

  • Prevalenceongoing

    Learn more about the types of cancers that occur in individuals with LFS and the age at which these cancers are usually found

  • Multiple measuresongoing

    Explore ways to lower cancer risk

  • Multiple measuresongoing

    Explore the typical features of the cancers diagnosed in individuals with LFS

  • Multiple measuresongoing

    Explore the psychological and social functioning issues faced by LFS families

  • Multiple measuresongoing

    Explore the best ways to look for cancers early in individuals with LFS

  • Multiple measuresongoing

    Determine if there is any connection between specific mutations in the TP53 gene and the risk of certain type of cancers

  • Multiple measuresongoing

    Determine if there are any environmental factors or other genes that can change a person's cancer risk associated with LFS

  • Multiple measuresongoing

    Determine how often a change (mutation) in the TP53 gene is found in families in which LFS is suspected