NCT02151747
Completed
Not Applicable
Pilot Study of Validation of Testing BRCA 1/2 Mutation Using Next Generation Sequencing
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Breast Neoplasms
- Sponsor
- Severance Hospital
- Enrollment
- 12
- Locations
- 1
- Primary Endpoint
- Overall Accuracy
- Status
- Completed
- Last Updated
- 6 years ago
Overview
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.
Investigators
Hyung Seok Park, MD, PhD
Clinical Assistant Professor
Severance Hospital
Eligibility Criteria
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
Outcomes
Primary Outcomes
Overall Accuracy
Time Frame: 1 year
after enrollment, comparison between Sanger and NGS method will be performed.
Secondary Outcomes
- Sensitivity, Specificity(1 year)
Study Sites (1)
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