Germline TP53 gene testing in patients seen at the IEO

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

This project looks at past genetic test results to see how often harmful TP53 changes were found in people who had counseling and germline TP53 testing at the IEO between 2004 and 2025.

Quick facts

• Study type: Observational
• Enrollment: 1940 (estimated)
• Ages: 18 Years to 90 Years
• Sex: All
• Sponsor: European Institute of Oncology (Academic / other)
• Locations: 1 site (Milan)
• Trial ID: NCT07419893 on ClinicalTrials.gov

What this trial studies

This is a retrospective, observational cohort of consecutive patients referred for genetic counseling and germline TP53 testing at the Istituto Europeo di Oncologia (IEO) from 2004 to 2025. Clinical records and genetic test results will be reviewed to identify Pathogenic or Likely Pathogenic variants in TP53 and to capture the referral criteria and testing approach used. The primary endpoint is the overall detection rate of TP53 pathogenic variants among individuals referred to the institute and comparison of detection rates between subgroups defined by referral criteria and testing methods. Analyses will report frequencies, rates, and differences between groups using standard statistical methods appropriate for cohort data.

Who should consider this trial

Good fit: Patients who had at least one genetic counseling visit at the IEO, underwent germline TP53 testing, and provided written consent for research use of their data are eligible for inclusion.

Not a fit: People who never had TP53 testing or counseling at the IEO or who did not sign consent for research are not included and will not directly benefit from this analysis.

Why it matters

Potential benefit: If successful, the findings could help refine who should be offered germline TP53 testing and improve genetic counseling recommendations.

How similar studies have performed: Previous cohort studies and registries have reported detection of pathogenic TP53 variants in similar populations, so this project builds on established findings using a long single-center series.

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.

Where this trial is running

Milan

• Istituto Europeo di Oncologia — Milan, Italy (Recruiting)

Study contacts

• Study coordinator: Mariarosaria Calvello, MD

Conditions TP53 Gene Mutation; Multi-Gene Transcriptional Profiling; TP53 Gene Germline Mutation Carrier