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GTR Home > Tests > Hereditary Breast and Ovarian Cancer BRCA1&2

Overview

Test name

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Hereditary Breast and Ovarian Cancer BRCA1&2 (BRCA1/2)

Purpose of the test

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This is a clinical test intended for Help: Drug Response, Mutation Confirmation, Pre-symptomatic, Predictive, Prognostic, Risk Assessment, Screening, Therapeutic management

Condition

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How to order

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Order URL Help: http://www.genekor.com/hereditary-breast-ovarian-cancer-brca1%262-p-211.html

Specimen source

Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Applied Biosystems 3130 Genetic Analyzer, MRC Holland
  • Illumina MiSeq system
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Applied Biosystems 3130 Genetic Analyzer, CE IVD Kit
  • Illumina MiSeq system
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130 Genetic Analyzer
  • Illumina MiSeq system

Summary of what is tested

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Clinical utility

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Guidance for management

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

Suggested reading

  • USPSTF, 2019
    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force
  • USPSTF, 2013
    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation (See 2019 Update)
  • Phillips et al., 2013
    Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
  • Domchek et al., 2010
    Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers with Cancer Risk and Mortality
  • NCI PDQ, Cancer Genetics Counseling
    Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version

Practice guidelines

  • NICE, 2023
    UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023
  • NICE, 2023
    UK NICE Clinical guideline (CG122), Ovarian cancer: recognition and initial management, 2023
  • NCCN, 2022
    NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022
  • ACMG ACT, 2019
    American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.