The first part of this two-part review of established and emerging breast cancer biomarkers and molecular diagnostics considers breast cancer predisposition, screening tests for diagnosis, diagnosis using small specimens and metastatic lesions, micrometastatic disease and breast cancer prognosis assessment. Prognostic factors covered in this review include: cytogenetic markers, DNA ploidy and S phase determination, cell proliferation markers, cell cycle regulators and growth factor measurements including epithelial growth factor receptor, HER-2/neu and a variety of other relevant molecules controlling proliferation, differentiation and angiogenesis. The first section of part two will continue the consideration of breast cancer prognostic factors including oncogenes, tumor suppressor genes, cell adhesion molecules, invasion-associated proteins and proteases, hormone receptor proteins, drug resistance proteins, apoptosis regulators, transcription factors, telomerase, DNA repair and methylation and transcriptional profiling using high-density genomic microarrays. The second section of part two will consider the prediction of therapy response using the techniques of pharmacogenetics and pharmacogenomics.