title: Integrating breast cancer genetics into clinical practice.
abstract: Breast cancer prognosis and treatment is guided by traditional clinicopathological parameters and individual molecular markers. Despite the remarkable advances in our scientific understanding of breast cancer genetics, the impact of such information on medical care has, to date, been modest. Although the use of simple genetics is already in vogue in clinical practice, the concept of molecular profiling and multiparameter gene classifiers was raised after the introduction of the high-throughput gene expression microarrays. This technology, in addition to highlighting the molecular heterogeneity of breast cancer, has led to the development of prognostic and predictive gene signatures. Studies are underway to assess the clinical validity and clinical utility of these multigene assays and their incorporation into clinical practice. This article reviews the current status and projected future use of genetics and genomics in breast cancer management and their impact on the refinement of risk stratification to permit individualized and patient-tailored therapy. Limitations based on our current scientific understanding and realistic expectations are also explored.
authors.affiliation: Department of Histopathology, Nottingham University Hospitals NHS Trust & University of Nottingham, Nottingham, UK.
authors.forename: Abhik
authors.initials: A
authors.lastname: Mukherjee
authors.forename: Emad A
authors.initials: EA
authors.lastname: Rakha
mesh_terms: D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D005260:Female; D020869:Gene Expression Profiling / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D015894:Genome, Human; D006801:Humans; D009367:Neoplasm Staging; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D009857:Oncogenes; D011379:Prognosis