Testing BRCA 1/2 Mutation Using Next Generation Sequencing

NCT ID: NCT02151747

Last Updated: 2019-10-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

12 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-02-28

Study Completion Date

2015-02-28

Brief Summary

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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.

Detailed Description

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Conditions

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Breast Neoplasms Breast Cancer

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Sanger

BRCA 1/2 test results by Sanger sequencing

No interventions assigned to this group

NGS

BRCA 1/2 test results by NGS

No interventions assigned to this group

Eligibility Criteria

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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
Minimum Eligible Age

19 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Severance Hospital

OTHER

Sponsor Role lead

Responsible Party

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Hyung Seok Park, MD, PhD

Clinical Assistant Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Seung IL Kim, MD, phD

Role: STUDY_DIRECTOR

Yonsei University

JH Sohn, MD,phD

Role: STUDY_DIRECTOR

Yonsei University

Hyung Seok Park, MD

Role: PRINCIPAL_INVESTIGATOR

Yonsei University

Locations

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Yonsei University College of Medicine

Seoul, , South Korea

Site Status

Countries

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South Korea

Other Identifiers

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4-2013-0889

Identifier Type: -

Identifier Source: org_study_id

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