Breast Cancer, Breast Neoplasms
Conditions
Keywords
breast neoplasms, BRCA1, Sanger, NGS, Next generation sequencing
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.
Interventions
None listed
Sponsors
Severance Hospital
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
19 Years to 80 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Overall Accuracy | 1 year | after enrollment, comparison between Sanger and NGS method will be performed. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Sensitivity, Specificity | 1 year | Sensitivity and specificity of NGS |
Other
| Measure | Time frame | Description |
|---|---|---|
| False negative and false positive rates | 1 year | False negative and false positive rates of NGS |
Countries
South Korea
Outcome results
None listed