Who Can Benefit from BRCA Testing?

The decision to perform BRCA genetic testing should not be taken lightly, as the results have long-lasting implications for individuals and their families. The decision to determine appropriate candidates for testing is made within the context of a comprehensive family history, the individual’s medical and surgical history, and a focused physical exam, as well as assessment of the individual’s concerns and motivations for requesting a genetic risk assessment. Some of the NCCN criteria meriting BRCA testing include, but are not limited to:

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  • Individuals who have family with confirmed BRCA1/BRCA2 mutation
  • Individuals with a history of epithelial ovarian cancer; male breast cancer; pancreatic cancer or aggressive prostate cancer at any age
  • Individuals with a history of breast cancer in addition to 1 or more criteria (ie, breast cancer diagnosis ≤45 years of age)1

For specific details on the NCCN BRCA testing guidelines, please see Reference 1.

A detailed and wide-ranging family history is crucial to assessing individual risk and identifying those likely to benefit from BRCA testing.1 Any individual with a personal history of both breast and ovarian cancer or a family history containing both should be considered for testing. Key points in the family history include relatives on maternal and paternal sides with breast and ovarian cancer; the age at which a relative was diagnosed, and the ancestry or ethnicity of the individual.1

For those considering BRCA testing, genetic counseling is a necessary part of decision-making and should be done prior to and after testing. Its purpose is to help individuals put their genetic risk into the broader context of other lifetime disease and treatment risks, educate them about the meaning of test results for their own and their family’s health risks, and empower them to make informed decisions. Any discussion of cancer risk should include BRCA-associated HBOC risk, pancreatic cancer risk, melanoma risk, as well as prostate cancer risk in men.1

Several studies presented at the American Society of Clinical Oncology (ASCO) Annual Meeting in June 2013 suggest that family history taking and genetic follow-up of women diagnosed with breast cancer before age 50, as recommended by the National Comprehensive Cancer Network, remain suboptimal in advanced countries.4,5

Screening, Prevention and Management of BRCA1/2-positive Individuals

Unfortunately, a Michigan study presented at the 2013 ASCO Annual Meeting reported generally poor compliance (about 50%) with screening recommendations in women identified as BRCA1/2 mutation carriers.6 However, carriers of BRCA1/2 mutations require intensive screening and prevention strategies; these strategies begin earlier due to the earlier onset of disease.1 For women, clinical breast exams every 6 to 12 months along with annual mammograms and breast MRI, due to low sensitivity of mammograms in this age group, are recommended starting at age 25. Some breast cancer chemoprevention options, such as tamoxifen, may be an option, as they serve to reduce the risk for hormone-positive disease.

Angelina Jolie got the world talking about RRM and, in clinical practice, discussions about risk-reducing or prophylactic mastectomy (RRM) are critical.  A Dutch study presented at the ASCO Meeting found that RRM prolongs survival for BRCA1/2-positive women with a history of unilateral breast cancer; with a median 11.7 years of follow-up, the hazard ratio for death was 0.56 (95% CI: 0.32-0.99) with RRM.7 The procedure is highly protective against breast cancer and may improve survival in asymptomatic BRCA1/2 carriers.8 It is supported by NCCN on a case-by-case basis. Any discussion of RRM must provide frank information on the degree of protection conveyed and address psychosocial issues that may be overlooked.1

Recommendations for men in terms of breast cancer are also available. For men, breast self-exam training and education, as well as clinical breast exams every 6 to 12 months, are recommended starting at age 35. Baseline mammograms and prostate cancer screening are recommended at age 40.1  In terms of other cancer-prevention strategies, Risk-reducing salpingo-oophorectomy is recommended for women after age 35 or when they have decided not to have any more children.


The recent Supreme Court decision against patenting of genes focused on BRCA testing and is expected to make tests less expensive and more widely available.9 This ruling should be beneficial for individuals at risk, but further emphasizes the importance of thorough history taking and compliance with screening for high-risk individuals.

Further, the possibility that over-the-counter tests will be developed underscores the important role to be played by healthcare providers in ordering and interpreting such tests to avoid issues of poor understanding and unnecessary fear.10,11  While patient counseling may serve as an answer to some of the initial questions surrounding testing, the ethical considerations of genetic testing—notification of family members when an individual tests positive, privacy, and the possibility for genetic discrimination against asymptomatic individuals by insurers or employers—still remain.


1. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013. http://www.nccn.org. Accessed May 28, 2013.

2. Chen S, Iversen ES, Friebel T, et al. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol. 2006;24(6):863-871.

3. Bolton KL, Chenevix-Trench G, Goh C, et al. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA. 2012;307(4):382-390.

4. Ow SGW, Yong YFL, Chieng WS, Phyu PS, Lee SC. Inadequate family history assessment by oncologists as a physician barrier to referral for cancer genetics evaluation. J Clin Oncol. 2013;31(Suppl): Abstract 1535.

5. Lypas G, Papageorgiou K, Georgiou G, et al. Identification of breast cancer patients fulfilling NCCN criteria for genetic risk assessment. J Clin Oncol. 2013;31(Suppl): Abstract e12537.

6. Hain JZ, Mange S, Bach J, et al. Assessment of cancer screening practices after BRCA testing in Michigan. J Clin Oncol. 2013;31(Suppl):Abstract 1557.

7. Heemskerk-Gerritsen BAM, Hooning M, van Asperen CJ, et al. Efficacy of risk-reducing mastectomy on overall survival in BRCA1/2-associated breast cancer patients. J Clin Oncol. 2013;31(Suppl): Abstract 1502.

8. Heemskerk-Gerritsen BA, Menke-Pluijmers MB, Jager A, et al. Substantial breast cancer risk reduction and potential survival benefit after bilateral mastectomy when compared with surveillance in BRCA1 and BRCA2 mutation carriers: a prospective analysis. Ann Oncol. 2013;Apr 10 [epub ahead of print].

9. Nelson R. Myriad BRCA patents ruled invalid by US Supreme Court. Medscape Today News. http://www.medscape.com/viewarticle/805756. Accessed June 14, 2013.

10. Surbone A. Social and ethical implications of BRCA testing. Ann Oncol. 2011;22(Suppl 1):i60-i66.

11. American College of Medical Genetics. ACMG Statement on Direct-to-Consumer Genetic Testing. http://www.acmg.net/StaticContent/StaticPages/DTC_Statement.pdf. Accessed June 18, 2013.