Clinical trial · Observational
Germline Genetic Testing of the TP53 Gene
Germline Genetic Testing of the TP53 Gene: Identification, Characterization, and Management of Patients and Families at High Risk of Cancer
- 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)
This is a retrospective, observational, single-center study designed as a cohort analysis. The study population will include consecutive patients referred for genetic counseling and TP53 germline genetic testing between 2004 and 2025 at the Division of Cancer Prevention and Genetics of the IEO. The primary endpoint is to determine the overall detection rate of Pathological Variants (PVs) in the TP53 gene among individuals referred to the institute and the differences between the groups.
Conditions
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Multi-Gene Transcriptional Profiling | — | UNRESOLVED | — |
| TP53 Gene Germline Mutation Carrier | — | UNRESOLVED | — |
| TP53 Gene Mutation | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (3)
- label
- Group 1
- description
- Individuals fulfilling the 2015 Chompret criteria.
- label
- Group 2
- description
- Individuals fulfilling the Li-Fraumeni-Like (LFL) criteria according to Birch or Eeles.
- label
- Group 3
- description
- Individuals undergoing Multi-Gene Transcriptional Profiling in the absence of Li-Fraumeni Sindrome/Li-Fraumeni-Like criteria.
Primary outcomes (1)
- measure
- Overall detection rate of Pathological Variants (PVs) in the TP53 gene.
- timeFrame
- Baseline
- description
- To determine the overall detection rate of PVs in the TP53 gene among individuals referred to the Division of Cancer Prevention and Genetics at the IEO for TP53 genetic testing. Detection rate calculated as the number of patients with mutation of the TP53 gene divided by the total numer of patients tested.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
- Maximum age
- 90 Years
Show eligibility criteria text
Inclusion Criteria: * Have undergone at least one genetic counseling session at the Division of Cancer Prevention and Genetics of the IEO; * Have undergone germline TP53 genetic testing, regardless of the referral criteria for counseling and/or testing or the approach used; * Have provided written informed consent for participation in scientific research. Exclusion Criteria: * Absence of signed informed consent for participation in scientific research.
References
Publications (0)
Data not yet available