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BRCANGS: Testing BRCA 1/2 Mutation Using Next Generation Sequencing

Sponsor
Severance Hospital (Other)
Overall Status
Completed
CT.gov ID
NCT02151747
Collaborator
(none)
12
Enrollment
1
Location
12
Duration (Months)
1
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Actual Enrollment :
    12 participants
    Observational Model:
    Case-Control
    Time Perspective:
    Prospective
    Official Title:
    Pilot Study of Validation of Testing BRCA 1/2 Mutation Using Next Generation Sequencing
    Study Start Date :
    Feb 1, 2014
    Actual Primary Completion Date :
    Feb 1, 2015
    Actual Study Completion Date :
    Feb 1, 2015

    Arms and Interventions

    Arm Intervention/Treatment
    Sanger

    BRCA 1/2 test results by Sanger sequencing
    NGS

    BRCA 1/2 test results by NGS

    Outcome Measures

    Primary Outcome Measures

    1. Overall Accuracy [1 year]

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

    Secondary Outcome Measures

    1. Sensitivity, Specificity [1 year]

      Sensitivity and specificity of NGS

    Other Outcome Measures

    1. False negative and false positive rates [1 year]

      False negative and false positive rates of NGS

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    19 Years to 80 Years
    Sexes Eligible for Study:
    All
    Accepts 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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Yonsei University College of Medicine Seoul Korea, Republic of 120-752

    Sponsors and Collaborators

    • 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

    Study Documents (Full-Text)

    None provided.

    More Information

    Additional Information:

    Publications

    None provided.
    Responsible Party:
    Hyung Seok Park, MD, PhD, Clinical Assistant Professor, Severance Hospital
    ClinicalTrials.gov Identifier:
    NCT02151747
    Other Study ID Numbers:
    • 4-2013-0889
    First Posted:
    May 30, 2014
    Last Update Posted:
    Oct 7, 2019
    Last Verified:
    Oct 1, 2019
    Keywords provided by Hyung Seok Park, MD, PhD, Clinical Assistant Professor, Severance Hospital
    breast neoplasms, BRCA1, Sanger, NGS, Next generation sequencing
    Additional relevant MeSH terms:
    Breast Neoplasms

    Study Results

    No Results Posted as of Oct 7, 2019