Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress

This observational study, called LiFT UP, aims to better understand the TP53 gene and its connection to Li-Fraumeni Syndrome (LFS), a condition that increases cancer risk. Researchers are collecting data and samples from people with a TP53 gene change (pathogenic or likely pathogenic variant) found in their blood or saliva, or those with a family history of such a change. The goal is to improve our understanding of cancer risks associated with TP53 variants, help families receive more accurate counseling, and find better ways to prevent, detect, and treat cancer. The study also explores TP53 variants found in the blood that are not inherited. Success for this study means creating a valuable collection of specimens and data over five years or until the study closes. The study plans to enroll about 1500 participants, but its current recruitment status is unclear.

Study design
This is an observational study with a planned enrollment of about 1500 participants. It is not testing a specific drug or treatment.
What's involved
You would provide access to your medical records and answer short questionnaires periodically. You may also be asked to provide blood, saliva, eyebrow hair, and tumor tissue samples, and to share study information with family members.
Compensation
Not stated in the trial record.
Follow-up
Participants will be in this study until it closes or they withdraw consent. The primary goal is to establish a repository of specimens and data, measured at 5 years or study closure.

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NCT04541654

Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress

Recruiting
Not specifiedAll AgesObservational
Dana-Farber Cancer Institute
~1,500 participants
Updated 2026-03-27 on ClinicalTrials.gov
What's tested:Data and Specimen Collection

At a glance

Recruiting sites
3 of 3 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Repository of specimens and data
Measured over 5 years or Study closure
Li-Fraumeni Syndrome
TP53 Gene Mutation
Hereditary Cancer Syndrome
Clonal Hematopoiesis
Mosaicism
3 sites across 1 states
Massachusetts3
  • Judy E Garber, MD, MPH · PRINCIPAL_INVESTIGATOR · Dana-Farber Cancer Institute

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Eligibility criteria

Inclusion

Individuals with a TP53 pathogenic or likely pathogenic variant identified in blood or saliva,
Individuals with variants of uncertain significance in TP53 may be eligible at the PI's discretion,
Blood relatives of individuals with a TP53 variant, who may be presumed obligate carriers or healthy controls,
Individuals who meet Classic or Chompret LFS criteria whether or not they have a TP53 gene variant,
Individuals may enroll their deceased relatives in the study.
Individuals with a known TP53 variant that is not LFS, but rather ACE, CHIP, or mosaicism.
Individuals participating in other LFS studies can still enroll in LiFT UP. Investigators may be collaborators.

Exclusion

Individuals who decline to sign consent
Individuals who are unable to give consent or assent and are without a designated healthcare proxy
  • Repository of specimens and data5 years or Study closure

    Examine accuracy of family history and the extent to which families meet various published Li-Fraumeni family criteria or assess for de-novo mutations using descriptive statistics. Exact binomial confidence limits for percents will be calculated at 95% coverage. Tests of difference between \>2 groups for binary variables will use the Fisher exact test.