Originally published as JCO Early Release 10.1200/JCO.2004.04.086 on April 5 2004

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Impact of BRCA1/BRCA2 Counseling and Testing on Newly Diagnosed Breast Cancer Patients

From the Department of Oncology, Lombardi Cancer Center, Georgetown University, Washington, DC; and the Department of Psychiatry, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA.

Address reprint requests to Marc D. Schwartz, MD, Georgetown University School of Medicine, Lombardi Comprehensive Cancer Center, Cancer Control, 2233 Wisconsin Ave, NW, Suite 317, Washington, DC 20007; e-mail: schwartm{at}georgetown.edu

PURPOSE: Approximately 5% to 10% of newly diagnosed breast cancer patients carry a BRCA1 or BRCA2 mutation. Given these patients' high risk for contralateral breast cancer, bilateral mastectomy is increasingly considered a treatment option for newly diagnosed BRCA1/2 carriers. In the present study, we prospectively evaluated the impact on surgical decision-making of pretreatment genetic counseling and BRCA1/BRCA2 testing among breast cancer patients at high-risk for carrying a mutation.

PATIENTS AND METHODS: Participants were 194 newly diagnosed breast cancer patients who had not yet received definitive surgical treatment and who had at least a 10% prior probability of carrying a BRCA1/2 mutation. Participants were offered free genetic counseling and rapid BRCA1/2 testing. Primary analyses focused on the impact of BRCA1/2 test result on subsequent breast cancer surgical treatment.

RESULTS: Forty-eight percent of patients who were found to carry a BRCA1/2 mutation chose bilateral mastectomy as their definitive breast cancer surgery. In contrast, 24% of patients in whom no mutation was detected and 4% of test decliners opted for bilateral mastectomy. Additional predictors of bilateral mastectomy included patients' self-reports of physician recommendations for BRCA1/2 testing and bilateral mastectomy.

CONCLUSION: This study highlights patient interest in and the technical feasibility of offering presurgery BRCA1/2 testing to high-risk patients. Most importantly, these results demonstrate that BRCA1/2 test results significantly affect patients' surgical decision-making. The availability of genetic counseling and testing could serve as a valuable aid to patient decision-making for newly diagnosed breast cancer patients at high-risk for carrying a mutation.

Supported by grants RO1 CA/HG74861 (M.D.S.) and KO7 CA65597 (M.D.S.).

Authors' disclosures of potential conflicts of interest are found at the end of this article.

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