Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
LiFT_UP
Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)
2 other identifiers
observational
1,500
1 country
3
Brief Summary
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).
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Sep 2020
Longer than P75 for all trials
3 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
August 25, 2020
CompletedFirst Posted
Study publicly available on registry
September 9, 2020
CompletedStudy Start
First participant enrolled
September 15, 2020
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 31, 2030
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 31, 2032
March 27, 2026
March 1, 2026
10.3 years
August 25, 2020
March 24, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Repository of specimens and data
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.
5 years or Study closure
Secondary Outcomes (3)
Estimation of Cancer Risks in TP53 mutation carriers
5 years or Study closure
Modified segregation analysis
5 years or Study closure
Estimation of risk for the more commonly occurring cancers associated with inherited TP53 mutations
5 years or Study closure
Study Arms (1)
Variant in the TP53 Gene in blood or saliva
Variant in the TP53 gene found on a blood or saliva test, have a relative with a variant in the TP53 gene, or because participant meets genetic testing criteria for Li-Fraumeni Syndrome (LFS) based on personal or family cancer history
Interventions
* Provide research team and access to relevant medical records * Answer short questionnaires periodically * Consider consenting to other optional parts of the research such as: * Providing up to 3 tubes (15ml) of blood at or near the time of consent, as approved by treating physician (optional). * Provide a saliva sample (optional). * Provide eyebrow hairs for analysis of DNA from the bulb (15-20 eyebrow plucks) (optional). * Provide permission for obtainment of stored tissue specimens from cancer or pre-cancer surgeries or biopsies from the pathology departments where they have been stored (optional). * Consider inviting relatives to join the study (optional).
Eligibility Criteria
Adults and children with a TP53 gene variant identified in blood or saliva
You may qualify if:
- 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.
You may not qualify if:
- Individuals who decline to sign consent
- Individuals who are unable to give consent or assent and are without a designated healthcare proxy
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- National Cancer Institute (NCI)collaborator
- City of Hope Medical Centercollaborator
- Dana-Farber Cancer Institutelead
- Baylor College of Medicinecollaborator
Study Sites (3)
Boston Children's Hospital
Boston, Massachusetts, 02115, United States
Brigham and Women's Hospital
Boston, Massachusetts, 02215, United States
Judy E. Garber
Boston, Massachusetts, 02215, United States
Related Publications (1)
de Andrade KC, Lee EE, Tookmanian EM, Kesserwan CA, Manfredi JJ, Hatton JN, Loukissas JK, Zavadil J, Zhou L, Olivier M, Frone MN, Shahzada O, Longabaugh WJR, Kratz CP, Malkin D, Hainaut P, Savage SA. The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute. Cell Death Differ. 2022 May;29(5):1071-1073. doi: 10.1038/s41418-022-00976-3. Epub 2022 Mar 29. No abstract available.
PMID: 35352025DERIVED
Biospecimen
Salivary DNA, Hair Follicle Specimens, Tumor or normal Tissue Specimens, Other Specimens\* \*Donation by participants of deceased family member's pathology specimen
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Judy E Garber, MD, MPH
Dana-Farber Cancer Institute
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- FAMILY BASED
- Time Perspective
- OTHER
- Target Duration
- 5 Years
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Principal Investigator
Study Record Dates
First Submitted
August 25, 2020
First Posted
September 9, 2020
Study Start
September 15, 2020
Primary Completion (Estimated)
December 31, 2030
Study Completion (Estimated)
December 31, 2032
Last Updated
March 27, 2026
Record last verified: 2026-03
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- STUDY PROTOCOL, SAP, ICF
- Time Frame
- Data can be shared no earlier than 1 year following the date of publication
- Access Criteria
- DFCI - Contact the Belfer Office for Dana-Farber Innovations (BODFI) at innovation@dfci.harvard.edu
The Dana-Farber / Harvard Cancer Center encourages and supports the responsible and ethical sharing of data from clinical trials. De-identified participant data from the final research dataset used in the published manuscript may only be shared under the terms of a Data Use Agreement. Requests may be directed to Sponsor Investigator or designee\]. The protocol and statistical analysis plan will be made available on Clinicaltrials.gov only as required by federal regulation or as a condition of awards and agreements supporting the research.