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Bilateral Prophylactic Oophorectomy and Ovarian Cancer Screening Following BRCA1/BRCA2 Mutation Testing

Marc D. Schwartz, Elizabeth Kaufman, Beth N. Peshkin, Claudine Isaacs, Chanita Hughes, Tiffani DeMarco, Clinton Finch, Caryn Lerman

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, PhD, Georgetown University School of Medicine, 2233 Wisconsin Ave NW, Suite 317, Washington, DC 20007; e-mail: schwartm{at}georgetown.edu.

Purpose: Despite the widespread availability of genetic testing for BRCA1/BRCA2 mutations, little is known about the impact of testing on ovarian cancer prevention and screening. For mutation testing to effect cancer mortality, positive test results must be followed by appropriate behavior change. In this study, we prospectively examined the impact of BRCA1/2 testing on the utilization of prophylactic oophorectomy and ovarian cancer screening.

Participants and Methods: Participants were 289 high-risk women who underwent genetic counseling and testing for alterations in the BRCA1/2 genes. We measured self-reported receipt of bilateral prophylactic oophorectomy (BPO) and utilization of CA-125 and transvaginal ultrasound (TVU) in the year following testing, and examined the impact of test results on these outcomes. In addition, we examined the role of sociodemographic, medical, family history, and psychological variables on the receipt of BPO, CA-125, and TVU.

Results: Twenty-seven percent of mutation carriers, 5% of uninformative patients, and 2% of noncarriers received a BPO in the year following testing. In addition to test results, perceived risk for ovarian cancer and family history of ovarian cancer independently predicted receipt of BPO. The receipt of a positive test result was associated with increased utilization of CA-125 and TVU. Additional predictors included perceived risk for ovarian cancer (both CA-125 and TVU) and state anxiety (CA-125).

Conclusion: These results demonstrate the significant behavioral impact of receiving a positive BRCA1/2 test result. The increased rate of oophorectomy among mutation carriers suggests that testing for BRCA1/2 mutations may ultimately impact ovarian cancer mortality.

Supported by grant No. DAMB 17-96-C-6069 from the Department of Defense, grant No. RO1 HG01846 from the National Institute for Human Genome Research, and grant No. KO7 CA65597 from the National Cancer Institute.

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