TP53 Gene MutationNCT07419893
Germline Genetic Testing of the TP53 Gene
An observational study of TP53 Gene Mutation and Multi-Gene Transcriptional Profiling, run by European Institute of Oncology at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 90 years
- Conditions the study is for
- TP53 Gene Mutation, Multi-Gene Transcriptional Profiling, TP53 Gene Germline Mutation Carrier
- How many people
- 1,940 participants
- Where
- 1 siteItaly
- Study dates
- 29 Jan 2026to Jan 2031
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 90 years
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Absence of signed informed consent for participation in scientific research.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Istituto Europeo di Oncologia
Milan, 20141
Mariarosaria Calvello, +39 0294372651, mariarosaria.calvello@ieo.it
About this study
Official title: Germline Genetic Testing of the TP53 Gene: Identification, Characterization, and Management of Patients and Families at High Risk of Cancer
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.
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline
Secondary outcomes (5)
Detection rate of pathological variants in the TP53 gene across cohort
Fisher's exact test or Chi-squared test will be applied, as appropriate, to compare the detection rate of pathological variants in the TP53 gene between different groups.
Measured: Baseline
Detection rate of Variant of Uncertain Significance in the TP53 gene.
To determine the detection rate of Variant of Uncertain Significance (VUS) in the TP53 gene among all groups. Detection rate calculated as the number of patients with Variant of Uncertain Significance of the TP53 gene divided by the total numer of patients tested. Evaluation for potential reclassification of the detected TP53 VUS according to the 2025 ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Guidelines (v2.3.0)
Measured: Baseline
Detection rate of pathological variants and variants of Uncertain Significance in other cancer susceptibility genes.
Detection rate calculated as the number of patients with a mutation of gene other than the TP53 gene divided by the total numer of patients tested.
Measured: Baseline
Disease Free Survival
To compare the Disease Free Survival l of breast cancer patients carrying pathological variants in the TP53 gene with those observed in breast cancer patients tested through Multigene Panel Testing and who did not carry pathological variants or Variants of Uncertain Significance in any of the tested genes. Disease Free Survival will be defined as the time from surgery to invasive loco-regional recurrence, metastasis, other primary non-breast carcinomas, or death from any cause, whichever occurs first.
Measured: 5 years
Overall Survival (OS)
To compare the Overall Survival of breast cancer patients carrying pathological variants in the TP53 gene with those observed in breast cancer patients tested through Multigene Panel Testing and who did not carry pathological variants or Variants of Uncertain Significance in any of the tested genes. OS will be defined as the time from surgery to death from any cause.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Feb 2026
- Study start29 Jan 2026
- Primary completionJul 2026 (estimated)
- Study completionJan 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for TP53 Gene MutationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 1,940 participants (estimated)
Sponsor and investigators
- Lead sponsor
- European Institute of Oncology
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07419893
- Sponsor's protocol ID
- UID 5143
- Other IDs
- L2-483
- Status last verified
- Jan 2026
- First submitted
- 2 Feb 2026
- Last updated
- 19 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No