Testing BRCA 1/2 Mutation Using Next Generation Sequencing

Severance Hospital12 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Breast Neoplasms Breast Cancer

Eligibility

Sex: ALLMin age: 19 YearsMax age: 80 Years

Medical Language ↔ Plain English

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

Locations (1)

Yonsei University College of Medicine

Seoul, South Korea

Outcomes

Primary Outcomes

Overall Accuracy

after enrollment, comparison between Sanger and NGS method will be performed.

Time frame: 1 year

Secondary Outcomes

Sensitivity, Specificity

Sensitivity and specificity of NGS

Time frame: 1 year

Data from ClinicalTrials.gov

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