This Article Full Text Full Text (PDF) Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted Services Email this article to a colleague Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Save to my personal folders Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Peshkin, B. N. Articles by Isaacs, C. Search for Related Content PubMed PubMed Citation Articles by Peshkin, B. N. Articles by Isaacs, C.

BRCA1/2 Testing: Complex Themes in Result Interpretation

From the Department of Oncology/Division of Cancer Control, Lombardi Cancer Center, Georgetown University, Washington, DC.

Address reprint requests to Beth N. Peshkin, MS, CGC, Georgetown University, 2233 Wisconsin Ave, NW, Suite 317, Washington, DC 20007; email: peshkinb{at}gunet.georgetown.edu

ABSTRACT: Since the cloning of BRCA1 and BRCA2, genetic testing for breast and ovarian cancer susceptibility has become more widespread. However, interpretation of test results is not always straightforward. To illustrate this point, five vignettes adapted from actual cases are presented. As these cases demonstrate, in many high-risk families, a deleterious mutation in BRCA1 or BRCA2 is not identified in an affected proband. There are several potential explanations for such a finding, namely that an undetected mutation in BRCA1 or BRCA2 may exist, or there could be a mutation in a rare or undiscovered gene. In addition, the possibility that women with breast cancer represent sporadic cases within hereditary cancer families must also be considered. Finally, the occurrence of BRCA1/2 variants of uncertain significance, often missense mutations, further complicates the risk assessment. In some of these instances, extending testing to relatives can be helpful to clarify results. When hereditary breast cancer cannot be ruled out, individuals may still be at increased risk for cancer and therefore need to obtain appropriate surveillance. The process of genetic counseling is critical both before and after testing to ensure that patients understand the potential medical and psychosocial implications of testing and are aware of available options and resources. A multidisciplinary approach to service delivery, which includes clinicians in genetics and oncology, can facilitate patients’ decision making and provide continued access to information and support.

Presented in part during a poster session at the Thirty-Sixth Annual Meeting of the American Society of Clinical Oncology, New Orleans, LA, May 20-23, 2000.

This article has been cited by other articles:

				S. M. Miller, P. Roussi, M. B. Daly, J. S. Buzaglo, K. Sherman, A. K. Godwin, A. Balshem, and M. E. Atchison Enhanced Counseling for Women Undergoing BRCA1/2 Testing: Impact on Subsequent Decision Making About Risk Reduction Behaviors Health Educ Behav, October 1, 2005; 32(5): 654 - 667. [Abstract] [PDF]

				M. D. Schwartz, E. Kaufman, B. N. Peshkin, C. Isaacs, C. Hughes, T. DeMarco, C. Finch, and C. Lerman Bilateral Prophylactic Oophorectomy and Ovarian Cancer Screening Following BRCA1/BRCA2 Mutation Testing J. Clin. Oncol., November 1, 2003; 21(21): 4034 - 4041. [Abstract] [Full Text] [PDF]

				P. A. Daly, C. Nolan, A. Green, W. Ormiston, N. Cody, T. McDevitt, B. O'hIci, D. Byrne, E. McDermott, D. N. Carney, et al. Predictive testing for BRCA1 and 2 mutations: a male contribution Ann. Onc., April 1, 2003; 14(4): 549 - 553. [Abstract] [Full Text] [PDF]

				S. E. Gollust, S. C. Hull, and B. S. Wilfond Limitations of Direct-to-Consumer Advertising for Clinical Genetic Testing JAMA, October 9, 2002; 288(14): 1762 - 1767. [Abstract] [Full Text] [PDF]

				A. Edwards, G. Elwyn, and A. Mulley Explaining risks: turning numerical data into meaningful pictures BMJ, April 6, 2002; 324(7341): 827 - 830. [Full Text] [PDF]