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

October 3, 2019 updated by: Hyung Seok Park, MD, PhD, Severance Hospital

Pilot Study of Validation of Testing BRCA 1/2 Mutation Using Next Generation Sequencing

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 Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

12

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Korea, Republic of
      • Seoul, Korea, Republic of, 120-752
        • Yonsei University College of Medicine

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

19 years to 80 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with breast cancer

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Sanger
BRCA 1/2 test results by Sanger sequencing
NGS
BRCA 1/2 test results by NGS

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Overall Accuracy
Time Frame: 1 year
after enrollment, comparison between Sanger and NGS method will be performed.
1 year

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Sensitivity, Specificity
Time Frame: 1 year
Sensitivity and specificity of NGS
1 year

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
False negative and false positive rates
Time Frame: 1 year
False negative and false positive rates of NGS
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Severance Hospital

Investigators

  • Study Director: Seung IL Kim, MD, phD, Yonsei University
  • Study Director: JH Sohn, MD,phD, Yonsei University
  • Principal Investigator: Hyung Seok Park, MD, Yonsei University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

February 1, 2014

Primary Completion (Actual)

February 1, 2015

Study Completion (Actual)

February 1, 2015

Study Registration Dates

First Submitted

May 28, 2014

First Submitted That Met QC Criteria

May 29, 2014

First Posted (Estimate)

May 30, 2014

Study Record Updates

Last Update Posted (Actual)

October 7, 2019

Last Update Submitted That Met QC Criteria

October 3, 2019

Last Verified

October 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 4-2013-0889

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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