Testing BRCA 1/2 Mutation Using Next Generation Sequencing
Completed
- Conditions
- Breast NeoplasmsBreast Cancer
- Registration Number
- NCT02151747
- Lead Sponsor
- Severance Hospital
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 12
Inclusion Criteria
- 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
Exclusion Criteria
-Patients who do not agree with testing BRCA 1/2 mutation
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Overall Accuracy 1 year after enrollment, comparison between Sanger and NGS method will be performed.
- Secondary Outcome Measures
Name Time Method Sensitivity, Specificity 1 year Sensitivity and specificity of NGS
Trial Locations
- Locations (1)
Yonsei University College of Medicine
🇰🇷Seoul, Korea, Republic of
Yonsei University College of Medicine🇰🇷Seoul, Korea, Republic of