Boyd Lara K, Mao Xueying, Lu Yong-Jie
Queen Mary University of London, Barts and the London School of Medicine and Dentistry, Institute of Cancer, Centre for Molecular Oncology and Imaging, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK +44 20 7882 6140 ; +44 20 7014 0431 ;
Expert Opin Med Diagn. 2009 May;3(3):313-26. doi: 10.1517/17530050902828325. Epub 2009 Apr 8.
The development of cancer is accompanied by several genetic alterations. Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation found in the human population. SNP arrays offer a high-resolution, high-throughput technology for genome-wide analysis, allowing the simultaneous detection of genotype and copy number changes. The power of SNP arrays as a research tool has accelerated our understanding of the genetic alterations in cancer, providing potential clinical applications.
This manuscript reviews the use of SNPs in cancer research and discusses the potential clinical application of analysing SNPs for cancer predisposition analysis, diagnosis and prognosis. We also discuss potential future applications for the analysis of SNPs.
In writing this review, we have reflected on our own extensive experience in the field of cancer genomics and have surveyed peer-reviewed articles focussing on the application of SNPs in cancer research. In addition, we have referred to product websites.
Since its development, SNP array technology has been extensively applied in cancer research. Information generated from SNP array analysis has been providing valuable information. With the full understanding of the rich resources of SNPs and their effects on influencing cellular function, SNP arrays will revolutionise the clinical practice in cancer risk assessment, diagnosis and prognosis making the concept of personalised medicine a reality.
癌症的发展伴随着多种基因改变。单核苷酸多态性(SNP)是人类群体中最常见的基因变异形式。SNP 芯片提供了一种用于全基因组分析的高分辨率、高通量技术,能够同时检测基因型和拷贝数变化。SNP 芯片作为一种研究工具的强大功能加速了我们对癌症基因改变的理解,为潜在的临床应用提供了可能。
本文综述了 SNP 在癌症研究中的应用,并讨论了分析 SNP 用于癌症易感性分析、诊断和预后的潜在临床应用。我们还讨论了 SNP 分析未来可能的应用。
在撰写本综述时,我们回顾了自己在癌症基因组学领域的丰富经验,并查阅了专注于 SNP 在癌症研究中应用的同行评审文章。此外,我们还参考了产品网站。
自开发以来,SNP 芯片技术已在癌症研究中广泛应用。SNP 芯片分析产生的信息一直提供着有价值的信息。随着对丰富的 SNP 资源及其对细胞功能影响的充分理解,SNP 芯片将彻底改变癌症风险评估、诊断和预后的临床实践,使个性化医疗的概念成为现实。