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Recruiting NCT07419893

Germline Genetic Testing of the TP53 Gene

— Observational TP53 Gene Mutation Multi-Gene Transcriptional Profiling TP53 Gene Germline Mutation Carrier

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: TP53 Gene Mutation, Multi-Gene Transcriptional Profiling, TP53 Gene Germline Mutation Carrier. Basic parameters: 18 years — 90 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Italy
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Germline Genetic Testing of the TP53 Gene: Identification, Characterization, and Management of Patients and Families at High Risk of Cancer

Overview

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.

Primary outcome measures

  • Overall detection rate of Pathological Variants (PVs) in the TP53 gene. [Time frame: Baseline]
Secondary outcome measures (5)
  • Detection rate of pathological variants in the TP53 gene across cohort [Time frame: Baseline]
  • Detection rate of Variant of Uncertain Significance in the TP53 gene. [Time frame: Baseline]
  • Detection rate of pathological variants and variants of Uncertain Significance in other cancer susceptibility genes. [Time frame: Baseline]
  • Disease Free Survival [Time frame: 5 years]
  • Overall Survival (OS) [Time frame: 5 years]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

Italy · 1 center
  • Istituto Europeo di Oncologia — Milan

Identifiers

NCT: NCT07419893 · UID 5143 · L2-483

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗