Screening BRCA1 and BRCA2 Mutation Carriers for Breast Cancer

Women with BRCA mutations, who choose to decline or defer risk-reducing mastectomy, require a highly sensitive breast screening regimen they can begin by age 25 or 30. Meta-analysis of multiple observational studies, in which both mammography and magnetic resonance imaging (MRI) were performed annually, demonstrated a combined sensitivity of 94% for MRI plus mammography compared to 39% for mammography alone. There was negligible benefit from adding screening ultrasound or clinical breast examination to the other two modalities. The great majority of cancers detected were non-invasive or stage I. While the addition of MRI to mammography lowered the specificity from 95% to 77%, the specificity improved significantly after the first round of screening. The median follow-up of women with screen-detected breast cancer in the above observational studies now exceeds 10 years, and the long-term breast cancer-free survival in most of these studies is 90% to 95%. However, ongoing follow-up of these study patients, as well of women screened and treated more recently, is necessary. Advances in imaging technology will make highly sensitive screening accessible to a greater number of high-risk women.