BRCA1/BRCA2 genotyping

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Genetics

Indications

* USPSTF recommendations

Laboratory

Clinical significance

Radiology

Management

Notes

More general terms

Additional terms

References

  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 Medical Knowledge Self Assessment Program (MKSAP) 16, 17, 19. American College of Physicians, Philadelphia 2012, 2015, 2021
  2. Moyer VA et al Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement. Ann Intern Med. Published online 24 December 2013 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/24366376 <Internet> http://annals.org/article.aspx?articleid=1791499
  3. 3.0 3.1 Armstrong J et al. Utilization and outcomes of BRCA genetic testing and counseling in a national commercially insured population: The ABOUT study. JAMA Oncol 2015 Oct 1 PMID: https://www.ncbi.nlm.nih.gov/pubmed/26426480
    Narod S. Genetic testing for BRCA mutations today and tomorrow - about the ABOUT study. JAMA Oncol 2015 Oct 1; PMID: https://www.ncbi.nlm.nih.gov/pubmed/26426337
  4. Malone KE, Begg CB, Haile RW et al Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2. J Clin Oncol. 2010 May 10;28(14):2404-10 PMID: https://www.ncbi.nlm.nih.gov/pubmed/20368571
  5. 5.0 5.1 Kuchenbaecker KB, Hopper JL, Barnes DR et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 2017 Jun 20; 317:2402. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28632866 <Internet> http://jamanetwork.com/journals/jama/article-abstract/2632503
  6. U.S. Preventive Services Task Force (USPSTF) Draft Recommendation Statement BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing. https://www.uspreventiveservicestaskforce.org/Page/Document/draft-recommendation-statement/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing1
    U.S. Preventive Services Task Force (USPSTF) Draft Evidence Review Draft Evidence Review for BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing https://www.uspreventiveservicestaskforce.org/Page/Document/draft-evidence-review/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing1
  7. Breast Cancer Genetics Referral Screening Tool https://www.breastcancergenescreen.org/startScreen.aspx?path=p
    Ontario Family History Assessment Tool https://www.timeofcare.com/ontario-family-history-assessment-tool/
    Breast Cancer Genetics. Referral Screening Tool https://www.breastcancergenescreen.org/startScreen.aspx