The impact of BRCA1 and BRCA2 testing on surgical decision-making

E Matloff, MS

Yale Cancer Center/Yale School of Medicine, New Haven, CT United States

BRCA1 and BRCA2 testing can play a pivotal role in surgical decision-making for the breast cancer patient. BRCA carrier status affects the risk of new breast primaries, ipsilaterally and contralaterally, and the risk to develop carcinomas of other organs. This information may be crucial in guiding decision-making regarding lumpectomy/breast irradiation versus mastectomy, prophylactic bilateral mastectomy, prophylactic oophorectomy, timing and mode of reconstruction, increased surveillance, and use of tamoxifen. This information also impacts the risks and options for other family members, and is associated with ethical and legal liability. A genetic counseling model that incorporates surgical options will be outlined, and two clinical case studies involving genetic testing and surgical decision-making will be discussed in detail.

KEY WORDS: genetic testing, breast cancer, breast surgery, genetic counseling, prophylactic surgery.

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Paper presented at the International Symposium on Predictive Oncology and Intervention Strategies; Paris, France; February 9 - 12, 2002; in the section on Molecular Pathology.