BRCA1, RASSF1A and PTEN Methylation in Breast Lesions of Uncertain Malignant Potential

This prospective interventional diagnostic study evaluates the clinical utility of methylation analysis of BRCA1, RASSF1A and PTEN genes in breast lesions of uncertain malignant potential (B3 lesions). Women with suspicious non-palpable breast lesions undergo standard diagnostic procedures including clinical examination, imaging assessment, and image-guided core needle biopsy when indicated. As part of the study protocol, breast tissue samples are prospectively assigned to additional molecular diagnostic testing using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The study evaluates whether gene promoter methylation status improves diagnostic assessment by comparing methylation results with final histopathological diagnosis.

NCT Number	NCT07416500
Lead Sponsor	Institute of Oncology Ljubljana
Conditions	Breast Cancer, Breast Lesions of Uncertain Malignant Potential (B3 Lesions)
Enrollment	301 participants
Start Date	2024-09-01
Primary Completion	2025-06-30 (estimated)
Study Completion	2025-06-30 (estimated)
Updated on ClinicalTrials.gov	2026-02-25