Management of women at high risk for breast cancer: new imaging beyond mammography.

The management of women with an increased lifetime risk of breast cancer is a difficult task. This is especially true for women with a documented mutation in a breast cancer susceptibility gene (BRCA), and also for those who tested negative for a mutation, but have a family history that is suggestive of familial breast cancer. Primary prevention by prophylactic mastectomy has been shown to reduce breast cancer incidence in these women, but this intervention is still not considered a "first-line" option in the majority of guidelines. Instead, secondary prevention (intensified surveillance) is recommended. However, due to the early onset of familial breast cancer, screening must start at a substantially younger age than in women at average risk. This, together with the fact that familial breast cancers may differ from sporadic cancers in many aspects, will have a significant impact on the design and on the success rates of surveillance protocols. This article describes the different management options that exist for women at increased genetic risk and provides a survey of the current evidence regarding mammographic and non-mammographic imaging techniques. The conclusion is that mammographic screening, with or without concomitant ultrasound and clinical breast examination, is probably not sufficient to ensure an early diagnosis of familial breast cancer. If MRI is integrated in surveillance programs, early diagnosis seems to be possible. Still, the efficacy of screening even with MRI is unclear in terms of morbidity and mortality, and this lack of evidence must be communicated to women at high genetic risk.