GTR Home > Tests > Familial BRCA1 and BRCA2 mutation analysis

Overview

Test name

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Familial BRCA1 and BRCA2 mutation analysis

Purpose of the test

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

Condition

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2 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

Summary of what is tested

2 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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A woman has an 11-12% lifetime risk of developing breast cancer, and a 1% lifetime risk of developing ovarian cancer. Most cases of breast or ovarian cancer are sporadic; however, 5-10% of breast and ovarian cancers are hereditary. Two breast cancer susceptibility genes have been isolated, BRCA1 and BRCA2, with germline mutations in these genes accounting for the majority of families with hereditary breast and/or ovarian cancer. The presence of a mutation in either BRCA1 or BRCA2 will increase an individual’s lifetime risk of developing cancer to 60-85%. The genes for BRCA1 and BRCA2 are located on chromosome 17 and chromosome 13, respectively. The hereditary forms of cancer due to mutations in BRCA1 and BRCA2 follow an autosomal dominant pattern of inheritance, meaning that an individual who has a mutation has an increased risk of developing cancer and a 50% chance of passing the gene to each of his or her children.

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

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

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

Test services

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

Suggested reading

  • 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

  • ACMG, 2016
    Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
  • ACMG, 2015
    ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
  • ACMG/NSGC, 2015
    A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
  • ASCO, 2014
    American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
  • USPSTF, 2014
    Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.
  • USPSTF, 2014
    Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from 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
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • NCCN, 2013
    National Comprehensive Cancer Network practice guidelines in oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian
  • NSGC, 2013
    NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.
  • ASCO, 2010
    American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
  • ACOG, 2009
    ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome.
  • NSGC, 2007
    Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
  • ACS, 2007
    American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
  • NSGC, 2004
    Genetic cancer risk assessment and counseling: recommendations of the National Society of Genetic Counselors.

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