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High risk for BRCA mutations: genetic testing, counseling affect breast cancer treatment.(Gynecology)
Genetic testing and counseling were shown in a recent study to be valuable aids to treatment decision making for the 5%-10% of breast cancer patients at high risk of BRCA1 and BRCA2 carriage, but feasibility of this approach is a concern.
In 194 patients with newly diagnosed breast cancer and at least a 10% likelihood of carrying a BRCA1 or BRCA2 mutation, genetic counseling and testing were significant factors in decision making. Of the 31 patients found to carry a BRCA mutation, 48% elected to undergo bilateral mastectomy to reduce the high risk of developing contralateral breast cancer. Only 24% of the 136 patients with no identified mutation, and only 4% of the 27 who declined to undergo genetic testing chose bilateral mastectomy, Dr. Marc D. Schwartz of Georgetown University, Washington, and his colleagues reported (J. Clin. Oncol. [online] 22[10]. 2004; www.jco.org/cgi/reprint/JCO.2004.02.994v1).
Of the 167 patients who had genetic testing, 38 (23%) underwent definitive treatment before receiving the test results. The decision among these patients to undergo surgery was found not to be associated with the test results in these patients, but the decision to undergo surgery was strongly associated with positive test results in the remaining 129 who waited for results prior to making a treatment decision (odds ratio 3.53).
Other significant independent predictors of bilateral mastectomy were physician recommen-dation for genetic testing (odds ratio 3.28) and surgeon recommendation to consider bilateral mastectomy (odds ratio 5.15), the investigators noted.
Variables associated with bilateral mastectomy among the "surprisingly high" number of patients with uninformative genetic test results who opted for this treatment were number of first degree relatives with breast or ovarian cancer, ethnic background other than Ashkenazi Jewish, physician recommendation for testing, and surgeon recommendation for bilateral mastectomy, they said.
The impact of genetic testing on treatment decision making in this study suggests that such testing should be offered to ...
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