Understanding Li-Fraumeni Syndrome and TP53 Variants
Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)
Dana-Farber Cancer Institute · NCT04541654
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 |
|---|---|
| Enrollment | 1500 (estimated) |
| Sex | All |
| Sponsor | Dana-Farber Cancer Institute (other) |
| Locations | 3 sites (Boston, Massachusetts and 2 other locations) |
| Trial ID | NCT04541654 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals with TP53 pathogenic variants, those meeting LFS criteria, and blood relatives of affected individuals.
Not a fit: Patients who decline to sign consent or cannot provide consent without a healthcare proxy may not benefit from this study.
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 performed: Other studies have shown success in understanding hereditary cancer syndromes, making this approach promising yet still novel in its specific focus on TP53 variants.
Eligibility criteria
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 this trial is running
Boston, Massachusetts and 2 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Li-Fraumeni Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome, Clonal Hematopoiesis, Mosaicism