The aim of this review is to identify the evidence for the surveillance of women at high risk of breast cancer with the different modalities. The definition of high risk refers to the subpopulation of women with a family history of breast cancer, including both those with and without identified genetic mutations. The following topic has been evaluated: clinical breast examination (CBE), mammography, ultrasound and MRI accuracy of detecting breast cancer among women at high risk. The search was limited to full reports published in English and published between 1996 and March, 2010. We found consistent evidence that adding MRI provides a highly sensitive screening strategy (sensitivity range: 93-100%) compared to mammography alone (32-86%) or mammography plus ultrasound +/- CBE (26-93%). Three studies that compared MRI plus mammography versus mammography alone showed the sensitivity of MRI plus mammography as 93% (95% CI 86-100%) and the incremental sensitivity of MRI as 60%. Incremental sensitivity of MRI was lower when added to mammography plus ultrasound (43%) or to the combination of mammography, ultrasound plus CBE. Estimates of screening specificity with MRI were less consistent but suggested a 3-5-fold higher risk of patient recall for investigation of false positive results. No studies assessed whether adding MRI reduces patient mortality, interval or advanced breast cancer rates, even if we found strong evidence that MRI leads to the detection of earlier stage disease. This review suggests that a surveillance strategy would be accurate and effective in improving health outcomes for women at high risk of breast cancer, but randomized studies should be considered for a better evaluation of these topics.
Keywords: breast MRI, high risk women, mammography, Surveillance, ultrasound, BRCA1, BRCA2, breast cancer, Combination Screening Strategies