The presence of tumor cells in the bone marrow of primary breast cancer patients at surgery has been shown to be an independent prognostic indicator of relapse. Tumor cells have been detected either directly, using immunocytochemical staining, or indirectly, using reverse transcription-polymerase chain reaction (RT-PCR). Studies have been initiated to determine whether the presence of disseminated cells can be monitored during the therapy of patients with primary breast cancer, and thus potentially be used to predict relapse before overt metastases are detectable. Studies are also ongoing to improve methods of detection, such as immunobead enrichment followed by staining and real-time RT-PCR, and to find alternative markers for the disseminated cells. Studies of patients with overt metastases have shown that there is a large tumor load in the peripheral blood and that this predicts overall survival. This article reviews the published literature on studies carried out in both primary and metastatic breast cancer patients, the methodologies and markers used, and improvements in detection methodologies that are being investigated including real-time RT-PCR, novel markers, enrichment and automated image analysis.