跳至主要内容
临床试验/NCT02151747
NCT02151747已完成不适用

Pilot Study of Validation of Testing BRCA 1/2 Mutation Using Next Generation Sequencing

Severance Hospital1 个研究点 分布在 1 个国家目标入组 12 人开始时间: 2014年2月最近更新:
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

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

申办方类型
Other
责任方
Principal Investigator
主要研究者

Hyung Seok Park, MD, PhD

Clinical Assistant Professor

Severance Hospital

研究点 (1)

Loading locations...

相似试验