Abstract

Women with germline mutations in BRCA1 or BRCA2 are known to be at substantially elevated risk for breast cancer. With increasing acceptance of genetic testing, significant numbers of mutation carriers are being identified, but evidence-based guidelines for the management of women at hereditary risk are lacking. This article reviews the most commonly recommended modalities employed in breast cancer surveillance for women at increased risk. It is apparent that the standard techniques of breast self-examination, clinical breast examination, and mammography are suboptimal for the identification of hereditary breast cancer. At least half of the cancers in this population appear to be detected by physical examination in the intervals between routine radiographic surveillance. Host factors (eg, breast density) and tumor features (rapid proliferative rates) likely contribute to the relative insensitivity of mammography. These factors may be mitigated by the deployment of screening techniques for breast cancer such as ultrasound and magnetic resonance imaging. However, the effect of incremental screening on either stage at diagnosis or breast cancer mortality has not been defined. In addition, the impact of the relatively limited specificity of these techniques on the quality of life (QOL) of women at risk has not been studied. Further research is needed to evaluate the effect of incremental radiographic screening on outcomes, to delineate the best way to integrate the different modalities in terms of sequencing and frequency, and to identify interventions that will minimize the impact of intensive surveillance programs on the QOL of the women engaged in them.