Testing BRCA 1/2 Mutation Using Next Generation Sequencing (BRCANGS)

Yonsei University

Status: Completed

Conditions: Breast Cancer; Breast Neoplasms

Study type: Observational

Funder types: Other

Identifiers

NCT02151747

4-2013-0889

Details and patient eligibility

About

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.

Enrollment: 12 patients

Sex: All

Ages: 19 to 80 years old

Volunteers: No Healthy Volunteers

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

Trial design

12 participants in 2 patient groups

Sanger

Description:

BRCA 1/2 test results by Sanger sequencing

NGS

Description:

BRCA 1/2 test results by NGS