Clinical Breast Care Project, Henry M. Jackson Foundation for the Advancement of Military Medicine, Windber, PA, USA.
Curr Genomics. 2010 May;11(3):146-61. doi: 10.2174/138920210791110951.
Breast cancer is a heterogeneous disease with a complex etiology that develops from different cellular lineages, progresses along multiple molecular pathways, and demonstrates wide variability in response to treatment. The "standard of care" approach to breast cancer treatment in which all patients receive similar interventions is rapidly being replaced by personalized medicine, based on molecular characteristics of individual patients. Both inherited and somatic genomic variation is providing useful information for customizing treatment regimens for breast cancer to maximize efficacy and minimize adverse side effects. In this article, we review (1) hereditary breast cancer and current use of inherited susceptibility genes in patient management; (2) the potential of newly-identified breast cancer-susceptibility variants for improving risk assessment; (3) advantages and disadvantages of direct-to-consumer testing; (4) molecular characterization of sporadic breast cancer through immunohistochemistry and gene expression profiling and opportunities for personalized prognostics; and (5) pharmacogenomic influences on the effectiveness of current breast cancer treatments. Molecular genomics has the potential to revolutionize clinical practice and improve the lives of women with breast cancer.
乳腺癌是一种具有复杂病因的异质性疾病,它由不同的细胞谱系发展而来,沿着多种分子途径进展,并对治疗反应表现出广泛的可变性。乳腺癌治疗的“标准护理”方法是所有患者接受相似的干预措施,但这种方法正在迅速被基于个体患者分子特征的个性化医学所取代。遗传和体细胞基因组变异为定制乳腺癌治疗方案提供了有用的信息,以最大限度地提高疗效并最小化不良反应。在本文中,我们回顾了(1)遗传性乳腺癌和当前在患者管理中使用遗传性易感性基因;(2)新发现的乳腺癌易感性变异在改善风险评估方面的潜力;(3)直接面向消费者的测试的优缺点;(4)通过免疫组织化学和基因表达谱对散发性乳腺癌进行分子特征分析以及个性化预后的机会;(5)对当前乳腺癌治疗效果的药物基因组学影响。分子基因组学有可能彻底改变临床实践并改善乳腺癌患者的生活。