Clinical trial · Observational
Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)
NCT04541654CI-TRIAL-00106584LiFT_UPrecruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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).
Conditions
Conditions (5)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Clonal Hematopoiesis | — | UNRESOLVED | — |
| Hereditary Cancer Syndrome | — | UNRESOLVED | — |
| Li-Fraumeni Syndrome | — | UNRESOLVED | — |
| Mosaicism | — | UNRESOLVED | — |
| TP53 Gene Mutation | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Data and Specimen Collection | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- Variant in the TP53 Gene in blood or saliva
- description
- 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
- interventionNames
- Genetic: Data and Specimen Collection
Primary outcomes (1)
- measure
- Repository of specimens and data
- timeFrame
- 5 years or Study closure
- description
- 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.
Secondary outcomes (3)
- measure
- Estimation of Cancer Risks in TP53 mutation carriers
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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
References
Publications (1)
- DERIVEDde 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 35352025