Germline Genetic Testing of the TP53 Gene

NCT07419893 | Recruiting

• 2 other identifiers: UID 5143L2-483
• Study Type: observational
• Target: 1,940
• Locations: 1 country
• Sites: 1

Brief Summary

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

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

Outcome Measures

Primary Outcomes (1)

• Overall detection rate of Pathological Variants (PVs) in the TP53 gene.

  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.

  Baseline

Secondary Outcomes (5)

• Detection rate of pathological variants in the TP53 gene across cohort

  Baseline

• Detection rate of Variant of Uncertain Significance in the TP53 gene.

  Baseline

• Detection rate of pathological variants and variants of Uncertain Significance in other cancer susceptibility genes.

  Baseline

• Disease Free Survival

  5 years

• Overall Survival (OS)

  5 years

Study Arms (3)

Group 1

Individuals fulfilling the 2015 Chompret criteria.

Group 2

Individuals fulfilling the Li-Fraumeni-Like (LFL) criteria according to Birch or Eeles.

Group 3

Individuals undergoing Multi-Gene Transcriptional Profiling in the absence of Li-Fraumeni Sindrome/Li-Fraumeni-Like criteria.

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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. Participants will be stratified according to the referral criteria for genetic counseling and testing or the approach used.

You may qualify if:

• 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.

You may not qualify if:

• Absence of signed informed consent for participation in scientific research.

Sponsors & Collaborators

• European Institute of Oncology: lead

Study Sites (1)

Istituto Europeo di Oncologia

Milan, 20141, Italy

RECRUITING

Central Study Contacts

Mariarosaria Calvello, MD

CONTACT

+39 0294372651; mariarosaria.calvello@ieo.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 2, 2026
• First Posted: February 19, 2026
• Study Start: January 29, 2026
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): January 1, 2031
• Last Updated: February 19, 2026

Record last verified: 2026-01

Locations

IT (1)