NCT02151747已完成不适用
Pilot Study of Validation of Testing BRCA 1/2 Mutation Using Next Generation Sequencing
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 12
- 试验地点
- 1
- 主要终点
- Overall Accuracy
研究概览
简要总结
Testing BRCA 1/2 mutation is important for patients with breast cancer, and Sanger sequencing is a standard method to identify BRCA 1/2 mutation. Next generation sequencing (NGS) is a high-throughput parallel sequencing that can provide genetic information with high accuracy. NGS is a faster and cost-effective method to detect gene mutations compared to Sanger sequencing. In this study, we evaluated the clinical role of NGS testing for BRCA 1/2 compared to Sanger sequencing.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 19 Years 至 80 Years(Adult, Older Adult)
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age > 18
- •Breast or ovarian cancer history in 2nd degree family members
- •Male breast cancer
- •Bilateral breast cancer
- •Patient with breast cancer under 40 year of age
- •Simultaneous breast and ovarian cancer
- •Patients with epithelial ovarian cancer
- •Breast cancer with other simultaneous extramammary malignancy
排除标准
- •Patients who do not agree with testing BRCA 1/2 mutation
结局指标
主要结局
Overall Accuracy
时间窗: 1 year
after enrollment, comparison between Sanger and NGS method will be performed.
次要结局
- Sensitivity, Specificity(1 year)
研究者
Hyung Seok Park, MD, PhD
Clinical Assistant Professor
Severance Hospital
研究点 (1)
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