Understanding Li-Fraumeni Syndrome and TP53 Variants
Official title: Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)
Run by Dana-Farber Cancer Institute · NCT04541654 · Data updated 2026-11-12
This study is trying to understand cancer risks in people with Li-Fraumeni Syndrome or TP53 gene changes to help improve prevention and treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 1500 (estimated) |
| Sponsor | Dana-Farber Cancer Institute Academic / other |
| Locations | 3 sites (Boston, Massachusetts and 2 other locations) |
| Status | Recruiting |
| Started | September 15, 2020 |
| Main results expected | December 31, 2030 |
| Study ends | December 31, 2032 |
| Registry record updated | March 27, 2026 |
| Trial ID | NCT04541654 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals with TP53 pathogenic variants, those meeting LFS criteria, and blood relatives of affected individuals.
✕Probably not a fit
Patients who decline to sign consent or cannot provide consent without a healthcare proxy may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This research focuses on individuals with Li-Fraumeni Syndrome (LFS) or TP53 gene variants to better estimate cancer risks associated with these conditions. The study aims to collect medical records, questionnaires, and biological samples to improve cancer prevention, early detection, and treatment strategies. By enrolling around 1500 participants, the study seeks to enhance counseling for patients and families regarding cancer risks linked to TP53 variants. Additionally, it will explore the implications of non-inherited TP53 variants found in blood.
Why it matters
Potential benefit: If successful, this study could lead to improved cancer risk assessment and prevention strategies for individuals with TP53 variants.
How similar studies have gone: Other studies have shown success in understanding hereditary cancer syndromes, making this approach promising yet still novel in its specific focus on TP53 variants.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
-
Boston Children's Hospital
Boston, Massachusetts, United States Recruiting -
Brigham and Women's Hospital
Boston, Massachusetts, United States Recruiting -
Judy E. Garber
Boston, Massachusetts, United States Recruiting
Study contacts
- Principal investigator: Judy E Garber, MD, MPH — Dana-Farber Cancer Institute
- Study coordinator: Judy E Garber, MD, MPH
- Email: jegarber@partners.org
- Phone: 617-632-5770
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.