Ignite Creation Date:
2026-03-26 @ 3:19 PM
Ignite Modification Date:
2026-04-05 @ 1:17 PM
Study NCT ID:
NCT07428733
Status:
COMPLETED
Last Update Posted:
2026-02-24
First Post:
2026-02-04
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Gene Methylation for Diagnosis of Breast Lesions
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2026-03-25'}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'SINGLE_GROUP', 'interventionModelDescription': 'All participants undergo the same diagnostic molecular analysis of gene methylation as part of a single-group interventional diagnostic study.'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 401}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2024-09-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2026-02', 'completionDateStruct': {'date': '2026-01-09', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2026-02-16', 'studyFirstSubmitDate': '2026-02-04', 'studyFirstSubmitQcDate': '2026-02-16', 'lastUpdatePostDateStruct': {'date': '2026-02-24', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2026-02-24', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-12-31', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Diagnostic Accuracy (Sensitivity and Specificity) of BRCA1, RASSF1A and PTEN Methylation for Malignancy Detection in B3 Breast Lesions', 'timeFrame': 'Baseline (needle biopsy) to final histopathological diagnosis (up to 12 months)', 'description': 'Diagnostic accuracy of BRCA1, RASSF1A and PTEN gene methylation status measured in diagnostic needle biopsy tissue samples for predicting malignancy (malignant vs benign final diagnosis), using final histopathological diagnosis as the reference standard. Diagnostic performance will be reported as sensitivity and specificity (%), with additional diagnostic accuracy measures (PPV, NPV and AUC).'}], 'secondaryOutcomes': [{'measure': 'Concordance of BRCA1, RASSF1A and PTEN Methylation Status Between Needle Biopsy and Surgical Specimens', 'timeFrame': 'Up to 12 months after needle biopsy', 'description': "Agreement of BRCA1, RASSF1A and PTEN methylation status between diagnostic needle biopsy tissue samples and matched surgical excision specimens. Concordance will be assessed using percentage agreement (%) and Cohen's kappa coefficient (κ)."}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['breast lesions', 'gene methylation', 'BRCA1', 'diagnostic biomarkers', 'needle biopsy'], 'conditions': ['Breast Lesions of Uncertain Malignant Potential', 'PTEN']}, 'descriptionModule': {'briefSummary': 'Breast lesions of uncertain malignant potential represent a diagnostic challenge, as conventional histopathological assessment does not always reliably distinguish between benign and malignant changes.\n\nThe purpose of this prospective diagnostic study is to evaluate whether methylation patterns of selected breast cancer-related genes (BRCA1, RASSF1A, and PTEN) can help differentiate benign from malignant breast lesions.\n\nTissue samples obtained during diagnostic needle biopsy, and when applicable during surgical excision, will be analyzed for gene methylation status. The results will be compared with standard histopathological findings.\n\nThe study aims to improve diagnostic accuracy in breast lesions of uncertain malignant potential and contribute to better clinical decision-making in breast diagnostics.', 'detailedDescription': 'Breast lesions of uncertain malignant potential (B3 category) pose a significant diagnostic challenge in clinical practice, as they carry a variable risk of malignancy and often lead to surgical excision despite a substantial proportion of benign outcomes.\n\nEpigenetic alterations, particularly DNA methylation of tumor suppressor genes, are recognized as early events in breast carcinogenesis and may provide additional diagnostic information beyond conventional histopathology.\n\nThis prospective interventional diagnostic study investigates the diagnostic significance of methylation status of BRCA1, RASSF1A, and PTEN genes in breast lesions of uncertain malignant potential. Participants undergoing diagnostic evaluation for suspicious breast lesions will be enrolled after providing written informed consent.\n\nTissue samples obtained during diagnostic needle biopsy will be analyzed using molecular methods to determine gene methylation status. In cases where surgical excision is performed, methylation findings from needle biopsy specimens will be compared with those from surgical samples and correlated with final histopathological diagnosis.\n\nThe primary objective is to assess whether gene methylation patterns can distinguish benign from malignant breast lesions. Secondary objectives include evaluating concordance between needle biopsy and surgical specimens and analyzing differences in methylation profiles across histopathological lesion categories.\n\nThe study is conducted at the Institute of Oncology Ljubljana and does not influence clinical decision-making. All diagnostic and therapeutic procedures follow standard clinical practice.'}, 'eligibilityModule': {'sex': 'FEMALE', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'genderBased': True, 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Female patients aged 18 years or older.\n* Patients referred for diagnostic evaluation of breast lesions of uncertain malignant potential.\n* Availability of breast tissue samples obtained by diagnostic needle biopsy.\n* Written informed consent for participation in the study.\n\nExclusion Criteria:\n\n* Male patients.\n* Patients younger than 18 years.\n* Patients without breast lesions or without indication for diagnostic biopsy.\n* Inadequate or insufficient tissue material for molecular analysis.\n* Withdrawal of informed consent.'}, 'identificationModule': {'nctId': 'NCT07428733', 'briefTitle': 'Gene Methylation for Diagnosis of Breast Lesions', 'organization': {'class': 'OTHER', 'fullName': 'Institute of Oncology Ljubljana'}, 'officialTitle': 'Diagnostic Significance of BRCA1, RASSF1A and PTEN Methylation in Breast Lesions of Uncertain Malignant Potential', 'orgStudyIdInfo': {'id': 'OI-BRCA-METH-2024'}, 'secondaryIdInfos': [{'id': 'ERIDNPVO-0048/2024', 'type': 'OTHER', 'domain': 'Clinical Research Unit, Institute of Oncology Ljubljana'}]}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Diagnostic Molecular Analysis Arm', 'interventionNames': ['Diagnostic Test: Gene Methylation Analysis of BRCA1, RASSF1A and PTEN']}], 'interventions': [{'name': 'Gene Methylation Analysis of BRCA1, RASSF1A and PTEN', 'type': 'DIAGNOSTIC_TEST', 'description': 'Molecular analysis of BRCA1, RASSF1A, and PTEN gene methylation performed on breast tissue samples obtained during diagnostic procedures.', 'armGroupLabels': ['Diagnostic Molecular Analysis Arm']}]}, 'contactsLocationsModule': {'locations': [{'zip': '1000', 'city': 'Ljubljana', 'country': 'Slovenia', 'facility': 'Institute of Oncology Ljubljana', 'geoPoint': {'lat': 46.05108, 'lon': 14.50513}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Institute of Oncology Ljubljana', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}