Gene Methylation for Diagnosis of Breast Lesions

NCT07428733 | Completed

• 2 other identifiers: OI-BRCA-METH-2024ERIDNPVO-0048/2024
• Study Type: interventional
• Target: 401
• Locations: 1 country
• Sites: 1

Brief Summary

Breast lesions of uncertain malignant potential represent a diagnostic challenge, as conventional histopathological assessment does not always reliably distinguish between benign and malignant changes. The 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. Tissue 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. The study aims to improve diagnostic accuracy in breast lesions of uncertain malignant potential and contribute to better clinical decision-making in breast diagnostics.

Conditions

Breast Lesions of Uncertain Malignant Potential; PTEN

Keywords

breast lesions; gene methylation; BRCA1; diagnostic biomarkers; needle biopsy

Outcome Measures

Primary Outcomes (1)

• Diagnostic Accuracy (Sensitivity and Specificity) of BRCA1, RASSF1A and PTEN Methylation for Malignancy Detection in B3 Breast Lesions

  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).

  Baseline (needle biopsy) to final histopathological diagnosis (up to 12 months)

Secondary Outcomes (1)

• Concordance of BRCA1, RASSF1A and PTEN Methylation Status Between Needle Biopsy and Surgical Specimens

  Up to 12 months after needle biopsy

Study Arms (1)

Diagnostic Molecular Analysis Arm

EXPERIMENTAL

Diagnostic Test: Gene Methylation Analysis of BRCA1, RASSF1A and PTEN

Interventions

Gene Methylation Analysis of BRCA1, RASSF1A and PTEN DIAGNOSTIC_TEST

Molecular analysis of BRCA1, RASSF1A, and PTEN gene methylation performed on breast tissue samples obtained during diagnostic procedures.

Diagnostic Molecular Analysis Arm

Eligibility Criteria

• Age: 18 Years+
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Female patients aged 18 years or older.
• Patients referred for diagnostic evaluation of breast lesions of uncertain malignant potential.
• Availability of breast tissue samples obtained by diagnostic needle biopsy.
• Written informed consent for participation in the study.

You may not qualify if:

• Male patients.
• Patients younger than 18 years.
• Patients without breast lesions or without indication for diagnostic biopsy.
• Inadequate or insufficient tissue material for molecular analysis.
• Withdrawal of informed consent.

Sponsors & Collaborators

• Institute of Oncology Ljubljana: lead

Study Sites (1)

Institute of Oncology Ljubljana

Ljubljana, 1000, Slovenia

Location

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: All participants undergo the same diagnostic molecular analysis of gene methylation as part of a single-group interventional diagnostic study.

Study Record Dates

• First Submitted: February 4, 2026
• First Posted: February 24, 2026
• Study Start: September 1, 2024
• Primary Completion: December 31, 2025
• Study Completion: January 9, 2026
• Last Updated: February 24, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

SL (1)