Breast ultrasound in women with familial risk of breast cancer

Introduction: The aim of this study was to assess the performance and value of breast ultrasound in women with familial risk of breast cancer. Materials and Methods: From an initial dataset of 245 women with positive family history who had breast cancer surveillance utilising mammography or magnetic resonance imaging (MRI) between November 1994 and February 2001, 179 subjects with follow-up data were selected. Eighty-four women had breast ultrasound done with histopathological correlation available from 48 breast biopsies, performed in 42 women. Results: The sensitivity of ultrasound, mammography and MRI was 83.3%, 53.9% and 93.3%, respectively. The specificity of ultrasound, mammography and MRI was 65.5%, 85.7% and 63.6%, respectively. Ultrasound was the imaging modality with intermediate sensitivity, specificity, negative predictive value (NPV) and cancer detection rate. The sensitivity, specificity, positive predictive value (PPV), NPV and accuracy of combined mammography and ultrasound were 92.9%, 62.5%, 52.0%, 95.2% and 71.7%, respectively. These results did not differ significantly from MRI. Almost two-thirds of the breast biopsies were performed under ultrasound guidance. Conclusions: Although breast ultrasound screening per se was not assessed in this study, extrapolation of these results to sonographic screening of high familial risk women would come at a better specificity to MRI, albeit with a 10% decrease in sensitivity but at a fraction of the cost of MRI. Ultrasound also provides the advantage of convenient imaging guidance for biopsy. Employing ultrasound following mammography would match MRI in sensitivity, specificity, PPV, NPV and accuracy, and should not be ignored in these women.