GENOME-WIDE PROFILING OF COPY NUMBER ALTERATIONS IN CANCER: FOCUS ON MELANOMA

L. Pasini
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引用次数: 1

Abstract

Thanks to a never-before detailed view of the human genome, the last decade has brought to light the notion of DNA copy number variation (CNV) as the pivotal force contributing to population genomic diversity and evolution. It is as well clear now that cancer typically results in loosened control over genomic integrity and that the acquisition of somatic copy number alterations (SCNAs), whether confined to specific genes or affecting entire chromosome arms, is likely to be a fundamental prerequisite to the adaptive pressure that drives oncogenesis. This review gives a brief overview of key developments in genome-wide SCNA profiling, with specific emphasis on array-based techniques and deep-sequencing, which indeed enabled us to identify the large majority of genomic regions undergoing frequent alteration in human cancers and defining recognizable clinical phenotype. Alongside with the prospective to take advantage for future personalized precision medicine, high-throughput SCNA analysis have already proven diagnostic and prognostic potential, particularly for those clinically unpredictable and therapy-refractory tumors, such us cutaneous melanoma. Biomedical Reviews 2013; 24: 11-24.
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癌症中拷贝数改变的全基因组分析:重点是黑色素瘤
由于人类基因组前所未有的详细视图,在过去的十年中,DNA拷贝数变异(CNV)的概念被揭示为促进种群基因组多样性和进化的关键力量。同样清楚的是,癌症通常导致对基因组完整性的控制松动,体细胞拷贝数改变(SCNAs)的获得,无论是局限于特定基因还是影响整个染色体臂,都可能是驱动肿瘤发生的适应性压力的基本先决条件。这篇综述简要概述了全基因组SCNA分析的关键进展,特别强调了基于阵列的技术和深度测序,这确实使我们能够识别人类癌症中发生频繁改变的大部分基因组区域,并定义可识别的临床表型。除了利用未来个性化精准医疗的前景外,高通量SCNA分析已经证明了诊断和预后的潜力,特别是对于那些临床不可预测和治疗难治性的肿瘤,如皮肤黑色素瘤。生物医学评论2013;24: 11-24。
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