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GTR Home > Tests > 3 Ashkenazi BRCA1 and BRCA2 mutations

Overview

Test name

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3 Ashkenazi BRCA1 and BRCA2 mutations

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Risk Assessment, Screening, Pre-symptomatic, Monitoring

Condition

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How to order

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All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Amniocytes
Chorionic villi
Peripheral (whole) blood
Cell culture
Product of conception (POC)
Amniotic fluid
Cord blood
Fetal blood
Frozen tissue
Saliva
Fibroblasts
Buccal swab
Isolated DNA

Methodology

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Molecular Genetics
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. - PubMed ID: 9145676

Clinical validity

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The Ashkenazi Jewish population has been found to have two common mutations in the BRCA1 gene (185delAG and 5382insC) and one common mutation in BRCA2 gene (6174delT). It is believed that these three mutations account for 26% of the mutations for breast and/or ovarian cancers in the Ashkenazi Jewish population. An incidence of 2-3% for one of these three common mutations has been identified in the general Ashkenazi Jewish population.

Citations
  • The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. - PubMed ID: 9145676

Test services

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  • Confirmation of research findings
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis

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

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
  • 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.