The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute.
Kelvin César de Andrade, Elaine E Lee, Elise M Tookmanian...
https://pubmed.ncbi.nlm.nih.gov/35352025Actively Recruiting
All Genders
ID04541654
Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)
Led by Dana-Farber Cancer Institute · Updated on 2026-03-27
1500
Participants Needed
3
Research Sites
104 weeks
Total Duration
On this page
Sponsors
D
Dana-Farber Cancer Institute
Lead Sponsor
N
National Cancer Institute (NCI)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are investigating variants in the TP53 gene linked to Li-Fraumeni Syndrome (LFS), a hereditary condition that increases cancer risk, as well as TP53 variants found in blood for other reasons such as ACE/CHIP and mosaicism. This study aims to better estimate cancer risks associated with these variants to improve counseling, prevention, early detection, and treatment opportunities for affected individuals and their families. It also seeks to understand the significance of non-inherited TP53 variants in the blood. Participants may provide medical records and answer questionnaires periodically. Optional contributions include giving blood, saliva, eyebrow hair samples, and stored tumor tissue specimens. Participants may also invite family members to join. The study plans to enroll about 1500 people and will continue until it closes or participants withdraw consent. During the study, researchers will collect data and specimens, maintain a repository for up to five years or until study closure, and analyze cancer risks in TP53 mutation carriers. The study is observational, with no assigned treatments, and participants remain under their usual care. The National Cancer Institute partly funds the research and requires some genetic data to be shared anonymously with the research community.
CONDITIONS
Brief Title
Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- 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 principal investigator's discretion
- Blood relatives of individuals with a TP53 variant, who may be presumed carriers or healthy controls
- Individuals who meet Classic or Chompret Li-Fraumeni Syndrome criteria regardless of TP53 variant status
- Individuals may enroll deceased relatives in the study
- Individuals with known TP53 variants related to ACE, CHIP, or mosaicism
- Individuals participating in other Li-Fraumeni Syndrome studies may also enroll
You will not qualify if you...
- Individuals who decline to sign consent
- Individuals unable to give consent or assent and without a designated healthcare proxy
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Monitoring
Duration - Until study closure or participant withdrawal
Participants provide access to medical records, answer periodic questionnaires, and may provide optional biological samples including blood, saliva, eyebrow hairs, and stored tissue specimens. Some participants may invite relatives to join the study.
Periodic visits as needed for questionnaires and sample collection
Trial Site Locations
Total: 3 locations
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
2
Brigham and Women's Hospital
Boston, Massachusetts, United States, 02215
Actively Recruiting
3
Judy E. Garber
Boston, Massachusetts, United States, 02215
Actively Recruiting
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Research Team
J
Judy E Garber, MD, MPH
S
Sophie Cahill, BS
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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