Home › Li-Fraumeni Syndrome › NCT04541654
Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
RecruitingObservational study
Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)
Who can join
All ages · All sexes
Full eligibility criteria
Inclusion Criteria: * 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 Criteria: * Individuals who decline to sign consent * Individuals who are unable to give consent or assent and are without a designated healthcare proxy
About the study
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g. ACE/CHIP and mosaicism).
What is being tested
- Data and Specimen Collection (genetic)
Sponsor: Dana-Farber Cancer Institute · Participants: 1,500 · Started: Sep 15, 2020
Contact the study team
- Judy E Garber, MD, MPH · Phone: 617-632-5770
- Sophie Cahill, BS · Phone: 617-632-4795
Official record on ClinicalTrials.gov — NCT04541654
Locations in the U.S.
| Massachusetts | Boston Children's Hospital, Boston Brigham and Women's Hospital, Boston Judy E. Garber, Boston |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.