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BRCA Gene Mutation Testing

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Also known as: BRCA; Breast Cancer Susceptibility Genes 1 and 2
Formal name: Breast Cancer Gene 1; Breast Cancer Gene 2

Board approvedAll content on Lab Tests Online has been reviewed and approved by our Editorial Review Board.

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NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used. To access online sources, copy and paste the URL into your browser.

Sources Used in Current Review

Mayo Clinic Staff (2013 August 24). Genetic Testing for Breast Cancer: Psychological and social impact. Mayo Clinic. Available online at http://www.mayoclinic.com/health/genetic-testing/BR00014/METHOD=print. Accessed 7/18/2016.

Petrucelli, N. et. al. (Updated 2013 September 26). BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer. GeneReviews. Available online at http://www.ncbi.nlm.nih.gov/books/NBK1247/. Accessed 7/18/2016.

(2013 December 24). Final Recommendation Statement BRCA-related Cancer: Risk Assessment, Genetic Counseling and Genetic Testing, December 2013. U.S. Preventive Services Task Force. Available online at http://www.uspreventiveservicestaskforce.org/Page/Document/RecommendationStatementFinal/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing#citation5. Accessed 7/18/2016.

(Updated 2014 June 17). Genomics and Health, Quick Facts About Family Health History and Genetic Testing for Breast Cancer and Ovarian Cancer. CDC Public Health Genomics. Available online at http://www.cdc.gov/genomics/resources/diseases/breast_ovarian_cancer/quick_facts.htm#2. Accessed 7/18/2016.

(Updated 2014 November 7). Learning About Breast Cancer. National Human Genome Research Institute. Available online at http://www.genome.gov/10000507. Accessed 7/18/2016.

(Reviewed 2015 April 1). BRCA1 and BRCA2: Cancer Risk and Genetic Testing. National Cancer Institute. Available online at http://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet. Accessed 7/18/2016.

Mayo Clinic Staff. (2015 June 18). BRCA Gene Test for Breast and Ovarian Cancer Risk. Available online at http://www.mayoclinic.org/tests-procedures/brca-gene-test/basics/definition/prc-20020361. Mayo Clinic. Accessed 7/18/2016.

(2015 July). Katz, J.A. The Impact of BRCA Testing: Research at ASCO and Treatment Implications for Ovarian, Breast, Prostate, and Pancreatic Cancers. OBR Oncology. Available online at http://obroncology.com/obrgreen/article/The-Impact-of-BRCA-Testing-Research-at-ASCO-and-Treatment-Implications-for-Ovarian-Breast-Prostate-and-Pancreatic-Cancers. Accessed 7/18/2016.

(Updated 2015 October 20). Hereditary Breast and Ovarian Cancer. CDC Features. Available online at http://www.cdc.gov/Features/HereditaryCancer/. Accessed 7/18/2016.

(Revised 2016 April 5). Pancreatic Cancer Risk Factors. American Cancer Society. Available online at http://www.cancer.org/cancer/pancreaticcancer/detailedguide/pancreatic-cancer-risk-factors. Accessed 7/18/2016.

(Updated 2016 June 24) National Cancer Institute. Genetics of Breast and Ovarian Cancer. Available online at http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1. Accessed 7/18/2016.

(Updated 2016 July 14). Genetics of Prostate Cancer (PDQ®)–Health Professional Version. National Cancer Institute. Available online at http://www.cancer.gov/types/prostate/hp/prostate-genetics-pdq#link/_1051. Accessed 7/18/2016.

Sources Used in Previous Reviews

Fasouliotis SJ and Schenker JG. BRCA1 and BRCA2 Gene Mutations: Decision-Making Dilemmas Concerning Testing and Management. Obstetrical and Gynecological Survey 55(6); 373-384 (2000).

(2005 September 16, Revised). Overview: Breast Cancer. American Cancer Society [On-line information]. Available online at http://www.cancer.org/docroot/CRI/CRI_2_1x.asp?rnav=criov&dt=5.

(2005 January 1, Revised). Overview: Ovarian Cancer. American Cancer Society [On-line information]. Available online at http://www.cancer.org/docroot/CRI/CRI_2_1x.asp?dt=33.

(2005 September 5). Task Force Recommends Against Routine Testing for Genetic Risk of Breast or Ovarian Cancer in the General Population. Agency for Healthcare Research and Quality [On-line Press Release]. Available online at http://www.ahrq.gov/news/press/pr2005/brcagenpr.htm.

(2005 July 18, Updated). Fact Sheet on Genetic Testing for Breast and Ovarian Cancer Susceptibility. CDC Genomics and Disease Prevention [On-line information]. Available online at http://www.cdc.gov/genomics/info/factshts/breastcancer.htm.

(2005 September). Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility. U.S. Preventive Services Task Force [On-line Press Release]. Available online at http://www.ahrq.gov/clinic/uspstf/uspsbrgen.htm.

Petrucelli, N. et. al. (2004 September 3). BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer]. GeneReviews [On-line information]. Available online through http://www.genetests.org.

Brown, A. (2005 September 23). Most Breast Cancers Not Linked to Ovarian Cancer. MedlinePlus Reuters Health Information, from Journal of the National Cancer Institute [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/news/fullstory_27070.html.

Brian E Ward, Ph.D. FACMG. Senior Vice President of Medical Services. Myriad Genetic Laboratories.

(Updated 2007 November 27) Fact Sheet on Genetic Testing for Breast and Ovarian Cancer Susceptibility. CDC, Office of Public Health Genomics [On-line information]. Available online at http://www.cdc.gov/genomics/training/perspectives/factshts/breastcancer.htm. Accessed May 2009.

(Revised 2008 September 30). American Cancer Society [On-line information]. Available online through http://www.cancer.org. Accessed May 2009.

(2009 March 9). BRCA Results Influence Women's Views of Preventive Mastectomy American Cancer Society [On-line information]. Available online through http://www.cancer.org. Accessed May 2009.

(2009 February 24). Removal of Ovaries and Fallopian Tubes Cuts Cancer Risk for BRCA-1/2 Carriers. National Cancer Institute [On-line information]. Available online at http://www.cancer.gov/clinicaltrials/results/BRCA0209. Accessed May 2009.

(Updated 2009 February 25). Learning About Breast Cancer. National Human Genome Research Institute [On-line information]. Available online at http://www.genome.gov/page.cfm?pageID=10000507. Accessed May 2009.

Afonso, N. (2009 March 4). Women at High Risk for Breast Cancer - What the Primary Care Provider Needs to Know. Medscape from Journal of the American Board of Family Medicine. Available online at http://www.medscape.com/viewarticle/586947. Accessed May 2009.

Wu, A. (© 2006). Tietz Clinical Guide to Laboratory Tests, 4th Edition: Saunders Elsevier, St. Louis, MO. Pp 184-185.

(May 29, 2009) National Cancer Institute. BRCA1 and BRCA2: Cancer Risk and Genetic Testing. Available online at http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA. Accessed November 2009.

Baudhuin, Linnea, PhD, DABMG. Assistant Professor of Laboratory Medicine, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

Katrina Kotzer, MS, Certified Genetic Counselor. Department of Laboratory Medicine and Pathology, Division of Clinical Biochemistry and Immunology, Mayo Clinic, Rochester, MN.

Brittany Thomas, MS, Certified Genetic Counselor. Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, MN.

McKinsey Goodenberger, CGC. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

Petrucelli, N. et. al. (Updated 2011 January 20). BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer. GeneReviews [On-line information]. Available online at http://www.ncbi.nlm.nih.gov/books/NBK1247/. Accessed October 2012.

Kolor, K. (2011 October 10). Hereditary Breast and Ovarian Cancer: BRCA and Your Patient. Medscape Today News [On-line information]. Available online at http://www.medscape.com/viewarticle/749018. Accessed October 2012.

(Updated 2012 February 27). Learning About Breast Cancer. National Human Genome Research Institute [On-line information]. Available online at http://www.genome.gov/10000507. Accessed October 2012.

(Updated 2012 May 21). Breast and Ovarian Cancer. National Human Genome Research Institute [On-line information]. Available online at http://www.genome.gov/27527603. Accessed October 2012.

(Updated 2011 October 6). Genomics and Health, Quick Facts About Family Health History and Genetic Testing for Breast Cancer and Ovarian Cancer. CDC Public Health Genomics [On-line information]. Available online at http://www.cdc.gov/genomics/resources/diseases/breast_ovarian_cancer/quick_facts.htm#2. Accessed October 2012.

(Updated 2010 October 28). Hereditary Breast and Ovarian Cancer. CDC Features [On-line information]. Available online at http://www.cdc.gov/Features/HereditaryCancer/. Accessed October 2012.

Mayo Clinic staff (2011 January 18). Genetic testing for breast cancer: Psychological and social impact. MayoClinic.com [On-line information]. Available online at http://www.mayoclinic.com/health/genetic-testing/BR00014/METHOD=print. Accessed October 2012.

Preidt, R. (2012 September 7). X-Rays May Up Breast Cancer Risk for Women With Certain Genes: Study, Chest radiation before age 30 might be a risk for those with BRCA1/BRCA2 mutations. MedlinePlus Health Day [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/news/fullstory_129037.html. Accessed October 2012.

(Updated Dec. 21, 2012) National Cancer Institute. Genetics of Breast and Ovarian Cancer. Available online at http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1. Accessed Feb 2013.