Mukherjee Abhik, Rakha Emad A
Department of Histopathology, Nottingham University Hospitals NHS Trust & University of Nottingham, Nottingham, UK.
Womens Health (Lond). 2012 Jan;8(1):99-112. doi: 10.2217/whe.11.81.
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.
乳腺癌的预后和治疗由传统的临床病理参数和个体分子标志物指导。尽管我们对乳腺癌遗传学的科学认识取得了显著进展,但迄今为止,此类信息对医疗护理的影响并不大。虽然简单遗传学的应用在临床实践中已经流行,但在高通量基因表达微阵列引入后,分子谱分析和多参数基因分类器的概念才被提出。这项技术除了突出乳腺癌的分子异质性外,还促成了预后和预测基因特征的发展。目前正在进行研究,以评估这些多基因检测的临床有效性和临床实用性,以及它们在临床实践中的应用。本文综述了遗传学和基因组学在乳腺癌管理中的现状和未来应用前景,以及它们对优化风险分层以实现个体化和患者定制治疗的影响。同时也探讨了基于我们目前科学认识和现实期望的局限性。