Diagnostic Significance of BRCA1, RASSF1A and PTEN Methylation in Breast Lesions of Uncertain Malignant Potential
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 301
- 试验地点
- 1
- 主要终点
- Diagnostic Performance of BRCA1, RASSF1A and PTEN Methylation Analysis
研究概览
简要总结
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.
详细描述
Breast cancer is the most common malignancy in women. Epigenetic alterations, particularly DNA promoter methylation of tumor suppressor genes, play an important role in breast carcinogenesis and may occur early in disease development.
This single-center prospective interventional diagnostic study is conducted at the Institute of Oncology Ljubljana. Participants are women with suspicious non-palpable breast lesions referred through the Slovenian national screening program DORA or other diagnostic pathways.
All participants undergo standard diagnostic work-up, including:
- clinical breast examination,
- breast imaging (mammography and/or ultrasound),
- image-guided core needle biopsy when indicated.
Breast tissue samples obtained during biopsy or surgical excision are prospectively assigned to additional molecular testing using MS-MLPA to determine methylation status of BRCA1, RASSF1A and PTEN.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 40 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •Contraindications to standard diagnostic procedures
- •Insufficient tissue sample for molecular analysis
- •Withdrawal of informed consent
研究组 & 干预措施
MS-MLPA Methylation Analysis
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.
干预措施: MS-MLPA Methylation Analysis (Diagnostic Test)
结局指标
主要结局
Diagnostic Performance of BRCA1, RASSF1A and PTEN Methylation Analysis
时间窗: Up to June 2025
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.
次要结局
未报告次要终点