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Breast cancer patients with BRCA 1/2 mutations twice as likely to choose double mastectomy

Alexandria, VA--Newly diagnosed breast cancer patients who test positive for BRCA1 and BRCA2 gene mutations are twice as likely as non-carriers to opt for a double mastectomy to reduce the risk of cancer in the opposite breast, according to the first large-scale study evaluating the impact of genetic counseling and testing on breast cancer treatment decisions.

An accompanying editorial discusses the increasing demand for genetic testing and the challenges associated with offering genetic counseling and testing to high-risk patients in the clinical setting. Both the study and editorial will be published online April 5 in the Journal of Clinical Oncology (JCO).

"Our study shows that genetic counseling and testing can have a significant impact on treatment decisions among high-risk breast cancer patients," said Marc Schwartz, MD, associate professor of oncology at Georgetown University's Lombardi Cancer and lead author of the study. "Given the high risk of contralateral breast cancer among BRCA1 and BRCA2 carriers, genetic counseling and testing should be available to interested high-risk patients, so that they can make informed decisions about treatment."

Breast cancer patients with BRCA1 and BRCA2 mutations have a greatly elevated risk of developing cancer in the opposite breast as high as 60% by some estimates for at least 10 years following their original diagnosis.

Researchers at the Lombardi Cancer Center provided free genetic counseling to 167 patients newly diagnosed with breast cancer, with test results available in about two weeks. Thirty-one women tested positive for BRCA1 or BRCA2 mutations, while tests in the other 136 patients found no mutation or a mutation of unknown significance. Of those who tested positive for BRCA1 or BRCA2 mutations, 48% opted for an immediate double mastectomy, compared to 24% of women with no mutation or a mutation of unknown significance. Researchers noted that many of the women wh
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Contact: Carrie Housman
housmanc@asco.org
703-519-1423
American Society of Clinical Oncology
5-Apr-2004


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