Managing the breast in patients who test positive for hereditary breast cancer

The patient who tests positive for hereditary breast cancer has several important decisions to make regarding management of the breasts. Before making an informed decision, the physician must first review the screening assessment to make sure that the patient does not harbor an undiagnosed breast malignancy. In the absence of a malignancy, the management options for the breast range from nonoperative surveillance to prophylactic mastectomy to prevent cancer. In the event that a breast malignancy is diagnosed after a positive genetic test, implications for management of both the affected and the unaffected breast must be considered.

The clinical assessment of the patient who tests positive is discussed. If routine pretest mammograms were negative, should additional diagnostic studies be performed to exclude an undetected/occult malignancy, and if so, what are the roles of magnetic resonance imaging, ultrasonography, digital mammogram, and detection of breast cancer circulating tumor cells? Medical management may include increased surveillance and chemopreventative therapy, including tamoxifen and oral contraceptives. Surgical interventions may be undertaken to reduce risk in people with a genetic susceptibility gene for breast or ovarian cancer; risk-reducing surgical options include mastectomy with or without reconstruction and nipple-sparing techniques. Finally, we discuss management decisions for women who test positive and who are diagnosed with a primary breast cancer, compared to women who have no obvious primary tumor but test positive.