Ignite Creation Date:
2026-03-26 @ 3:18 PM
Ignite Modification Date:
2026-03-31 @ 4:00 AM
Study NCT ID:
NCT07419893
Status:
RECRUITING
Last Update Posted:
2026-02-19
First Post:
2026-02-02
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Germline Genetic Testing of the TP53 Gene
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2026-03-25'}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1940}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2026-01-29', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2026-01', 'completionDateStruct': {'date': '2031-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2026-02-12', 'studyFirstSubmitDate': '2026-02-02', 'studyFirstSubmitQcDate': '2026-02-12', 'lastUpdatePostDateStruct': {'date': '2026-02-19', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2026-02-19', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-07', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Overall detection rate of Pathological Variants (PVs) in the TP53 gene.', 'timeFrame': 'Baseline', 'description': '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.'}], 'secondaryOutcomes': [{'measure': 'Detection rate of pathological variants in the TP53 gene across cohort', 'timeFrame': 'Baseline', 'description': "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."}, {'measure': 'Detection rate of Variant of Uncertain Significance in the TP53 gene.', 'timeFrame': 'Baseline', 'description': '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)'}, {'measure': 'Detection rate of pathological variants and variants of Uncertain Significance in other cancer susceptibility genes.', 'timeFrame': 'Baseline', 'description': '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.'}, {'measure': 'Disease Free Survival', 'timeFrame': '5 years', 'description': '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.'}, {'measure': 'Overall Survival (OS)', 'timeFrame': '5 years', 'description': '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.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['TP53 Gene Mutation', 'Multi-Gene Transcriptional Profiling', 'TP53 Gene Germline Mutation Carrier']}, 'descriptionModule': {'briefSummary': '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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '90 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '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.\n\nParticipants will be stratified according to the referral criteria for genetic counseling and testing or the approach used.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Have undergone at least one genetic counseling session at the Division of Cancer Prevention and Genetics of the IEO;\n* Have undergone germline TP53 genetic testing, regardless of the referral criteria for counseling and/or testing or the approach used;\n* Have provided written informed consent for participation in scientific research.\n\nExclusion Criteria:\n\n* Absence of signed informed consent for participation in scientific research.'}, 'identificationModule': {'nctId': 'NCT07419893', 'briefTitle': 'Germline Genetic Testing of the TP53 Gene', 'organization': {'class': 'OTHER', 'fullName': 'European Institute of Oncology'}, 'officialTitle': 'Germline Genetic Testing of the TP53 Gene: Identification, Characterization, and Management of Patients and Families at High Risk of Cancer', 'orgStudyIdInfo': {'id': 'UID 5143'}, 'secondaryIdInfos': [{'id': 'L2-483', 'type': 'OTHER', 'domain': 'Comitato Etico Territoriale Lombardia 2'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Group 1', 'description': 'Individuals fulfilling the 2015 Chompret criteria.'}, {'label': 'Group 2', 'description': 'Individuals fulfilling the Li-Fraumeni-Like (LFL) criteria according to Birch or Eeles.'}, {'label': 'Group 3', 'description': 'Individuals undergoing Multi-Gene Transcriptional Profiling in the absence of Li-Fraumeni Sindrome/Li-Fraumeni-Like criteria.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '20141', 'city': 'Milan', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Mariarosaria Calvello', 'role': 'CONTACT', 'email': 'mariarosaria.calvello@ieo.it', 'phone': '+39 0294372651'}], 'facility': 'Istituto Europeo di Oncologia', 'geoPoint': {'lat': 42.78235, 'lon': 12.59836}}], 'centralContacts': [{'name': 'Mariarosaria Calvello, MD', 'role': 'CONTACT', 'email': 'mariarosaria.calvello@ieo.it', 'phone': '+39 0294372651'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'European Institute of Oncology', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}