Abstract

Background: This study addresses the impact a comprehensive genetic counseling program had on women considering prophylactic mastectomy or oophorectomy. Methods: Sixty patients underwent detailed family evaluation and risk was estimated. Recommendations were made regarding testing. Ramifications of testing were discussed in detail. Results: Thirty-one women (37%) were considering prophylactic surgery believing themselves to be at high risk. Of these, 23 had testing recommended. Seven patients proceeded with prophylactic surgery based solely on high-risk assessment. Ten women were tested; five were positive. Three patients proceeded with prophylactic surgery despite a negative test. One decided against surgery despite a positive test. After counseling, prophylactic surgery was performed in just over half the initial candidates. Conclusions: Breast cancer risk estimation and genetic evaluation can be complex. Comprehensive genetic risk assessment programs can play a significant role in the management of patients considering prophylactic surgery for perceived high risk.

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