Screening for Hereditary Breast Cancer

Most women at risk for hereditary breast cancer opt for intensive breast screening rather than risk-reducing mastectomy. For this to be a rational choice, the vast majority of tumors must be detected either while still in situ or at a very early stage of invasion. Annual screening mammography has low sensitivity in this population, in part due to the greater breast density of younger women, resulting in cancers being detected at a suboptimal stage. In six prospective comparative studies, the addition of annual contrast-enhanced magnetic resonance imaging (MRI) of the breast to mammography demonstrated greater than 90% sensitivity, more than twice that of mammography alone. In those studies that included ultrasound and clinical breast examination, additional cancers were rarely detected by these modalities. False positive rates were higher with the addition of MRI, but specificity improved on successive rounds of screening. Although long-term survival data are still lacking, there is mounting evidence that the addition of screening MRI to mammography detects hereditary breast cancers at an earlier stage and is thus estimated to be cost-effective, at least for women with BRCA mutations. This review will examine the literature and current screening recommendations.