Women who are at a significantly raised risk of developing breast cancer should be assessed by a medical geneticist to confirm their history, counselled as to appropriate management and offered breast screening. Currently mammography with magnetic resonance imaging is considered the optimal method of early detection of breast cancer in these women. While there is no evidence of mortality benefit there is evidence from surrogate markers that this intervention is worthwhile and cost effective. National recommendations have been produced by the National Institute of Clinical Excellence in the UK and also by the American Cancer Society.