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Breast cancer patients with BRCA1 or 2 mutations twice as likely to have double mastectomy

RCA1/2 testing, says Schwartz, and costs range from $415 for a limited test of three mutations in Jewish women to $2975 for a full BRCA1/2 test. "Genetic counseling is fairly accessible in the United States, but availability is far from universal. And even if cancer centers have genetic counseling resources, they may not be prepared to offer rapid counseling and testing as part of routine medical management of newly diagnosed breast cancer patients."

"We're not ready to recommend widespread integration of rapid genetic counseling and testing at the point of diagnosis until we evaluate long-term psychosocial and medical outcomes of counseling and testing in a true pay-for-services clinical setting," said Schwartz. "However, the real take away message from this study is that high risk breast cancer patients should be informed about the availability of genetic counseling and testing so that they can make informed choices about their cancer treatment. Many women in our study found that testing provided valuable guidance as they navigated their way through treatment options."

Women with a BRCA1 or BRCA2 alteration may choose to manage their increased risk of breast cancer by undergoing increased screening with frequent clinician performed breast exams, mammography and possibly magnetic resonance imaging (MRI). In addition, they may consider risk reducing options such as prophylactic mastectomy, tamoxifen, or prophylactic removal of the ovaries. The latter procedure significantly reduces the risk of ovarian cancer, the risks for which are also very elevated in these women, and simultaneously reduces the risk of breast cancer in women who have not yet undergone menopause.

"The complex issues involved in medical decision-making underscore the importance of patients discussing these issues with their doctor," said Beth Peshkin, MS, senior genetic counselor at LCCC and co-author of the study.


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Contact: Elizabeth McDonald
eem6@georgetown.edu
202-687-7707
Georgetown University Medical Center
5-Apr-2004


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