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

NCT07416500 | Completed

• 2 other identifiers: OI-B3METH-2024-010120-215/2024-2711-4
• Study Type: interventional
• Target: 301
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Breast Cancer; Breast Lesions of Uncertain Malignant Potential (B3 Lesions)

Keywords

BRCA1; RASSF1A; PTEN

Outcome Measures

Primary Outcomes (1)

• Diagnostic Performance of BRCA1, RASSF1A and PTEN Methylation Analysis

  Sensitivity (%), specificity (%), positive predictive value (%) and negative predictive value (%) of methylation status determined by MS-MLPA for detection of malignant breast lesions compared with histopathological diagnosis.

  Up to June 2025

Other Outcomes (1)

• Association of BRCA1, RASSF1A and PTEN Methylation Status With Histopathological Diagnosis

  Up to June 2025

Study Arms (1)

MS-MLPA Methylation Analysis

EXPERIMENTAL

Participants undergo standard diagnostic evaluation for suspicious non-palpable breast lesions. Breast tissue samples obtained during image-guided core needle biopsy or surgical excision are prospectively assigned to additional molecular testing using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) to determine promoter methylation status of BRCA1, RASSF1A and PTEN.

Diagnostic Test: MS-MLPA Methylation Analysis

Interventions

MS-MLPA Methylation Analysis DIAGNOSTIC_TEST

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is performed on breast tissue samples obtained during routine diagnostic procedures. The assay determines promoter methylation status of BRCA1, RASSF1A and PTEN. Results are compared with the final histopathological diagnosis to evaluate diagnostic performance.

MS-MLPA Methylation Analysis

Eligibility Criteria

• Age: 40 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Female participants aged 40 years or older
• Suspicious non-palpable breast lesion referred for diagnostic evaluation at the Institute of Oncology Ljubljana
• Undergoing image-guided core needle biopsy or surgical excision as part of standard diagnostic work-up
• Availability of sufficient breast tissue sample for methylation analysis Signed written informed consent

You may not qualify if:

• Contraindications to standard diagnostic procedures
• Insufficient tissue sample 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

MeSH Terms

Conditions

Breast Neoplasms

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

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 standard diagnostic procedures and molecular methylation analysis (MS-MLPA) of BRCA1, RASSF1A and PTEN in breast tissue samples.

Study Record Dates

• First Submitted: February 10, 2026
• First Posted: February 18, 2026
• Study Start: September 1, 2024
• Primary Completion: June 30, 2025
• Study Completion: June 30, 2025
• Last Updated: February 25, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

SL (1)