Clinical trial · Observational
Testing BRCA 1/2 Mutation Using Next Generation Sequencing
Pilot Study of Validation of Testing BRCA 1/2 Mutation Using Next Generation Sequencing
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Breast Cancer | Malignant Breast Neoplasm | CURATED_EXACT | 0.92 |
| Breast Neoplasms | Breast Neoplasm | ONTOLOGY_EXACT | 0.98 |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (2)
- label
- Sanger
- description
- BRCA 1/2 test results by Sanger sequencing
- label
- NGS
- description
- BRCA 1/2 test results by NGS
Primary outcomes (1)
- measure
- Overall Accuracy
- timeFrame
- 1 year
- description
- after enrollment, comparison between Sanger and NGS method will be performed.
Secondary outcomes (1)
- measure
- Sensitivity, Specificity
- timeFrame
- 1 year
- description
- Sensitivity and specificity of NGS
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 19 Years
- Maximum age
- 80 Years
Show eligibility criteria text
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
References
Publications (0)
Data not yet available