Clinical trial · Interventional
BRCA1, RASSF1A and PTEN Methylation in Breast Lesions of Uncertain Malignant Potential
Diagnostic Significance of BRCA1, RASSF1A and PTEN Methylation in Breast Lesions of Uncertain Malignant Potential
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Breast Cancer | Malignant Breast Neoplasm | CURATED_EXACT | 0.92 |
| Breast Lesions of Uncertain Malignant Potential (B3 Lesions) | Breast Neoplasm | PROBABILISTIC | 0.70 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| MS-MLPA Methylation Analysis | Diagnostic Test | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- type
- EXPERIMENTAL
- label
- MS-MLPA Methylation Analysis
- description
- 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.
- interventionNames
- Diagnostic Test: MS-MLPA Methylation Analysis
Primary outcomes (1)
- measure
- Diagnostic Performance of BRCA1, RASSF1A and PTEN Methylation Analysis
- timeFrame
- Up to June 2025
- description
- 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.
Eligibility
Eligibility (as posted)
- Sex
- Female
- Minimum age
- 40 Years
Show eligibility criteria text
Inclusion Criteria: * 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 Exclusion Criteria: * Contraindications to standard diagnostic procedures * Insufficient tissue sample for molecular analysis * Withdrawal of informed consent
References
Publications (0)
Data not yet available