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NCT Number: NCT07419893

Germline Genetic Testing of the TP53 Gene

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.

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Key information

Conditions

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

Age range

18 year–90 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Istituto Europeo di Oncologia

Milan, 20141, Italy

Location status: Recruiting

Location contact

Mariarosaria Calvello

CONTACT

[email protected]

+39 0294372651

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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

    Time frame: Baseline

    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.

Secondary outcomes

  1. Detection rate of pathological variants in the TP53 gene across cohort

    Time frame: Baseline

    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.

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

    Time frame: Baseline

    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)

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

    Time frame: Baseline

    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.

  4. Disease Free Survival

    Time frame: 5 years

    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.

  5. Overall Survival (OS)

    Time frame: 5 years

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Mariarosaria Calvello, MD

CONTACT

[email protected]

+39 0294372651

Sponsors and collaborators

Lead sponsor

European Institute of Oncology

Other

Registry information

Official study title

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

Important dates

Study start
2026
Primary completion
2026
Study completion
2031
First posted
Feb 19, 2026
Registry last updated
Feb 19, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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