Instituto de Investigaciones Biomédicas CSIC/UAM, Instituto de Investigación Sanitaria del Hospital Universitario, La Paz (IdiPaz), Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
Clin Transl Oncol. 2011 May;13(5):301-6. doi: 10.1007/s12094-011-0658-1.
DNA sequencing techniques have evolved rapidly in the last 5 years by the introduction of new sequencing machines, denominated second-generation sequencers, next-generation sequencers or massive parallel sequencers. These technologies make it possible to determine the complete sequence of the human genome, or selected regions of it, at accessible prices and in a short period of time. Therefore, it is now possible to determine the nucleotide sequence of the DNA from cancer cells and to compare it to that of normal cells to identify the genetic changes involved in cancer generation. Actually, the genome of more than 15 tumour types has been determined in the last 3 years. The results obtained have allowed the identification of new cancer driving genes, new susceptibility genes and the detailed identification of genome structural reorganisations. In this review a brief description of the new sequencing technologies will be presented. Recent findings on cancer genome and exome sequencing will be summarised. Finally, the potential applications of these new technologies to cancer prognosis, diagnosis and therapeutics will be discussed.
在过去的 5 年中,随着新一代测序仪(也称为第二代测序仪、下一代测序仪或大规模平行测序仪)的问世,DNA 测序技术得到了迅速发展。这些技术使得人们有可能以可承受的价格和较短的时间确定人类基因组的完整序列或其选定区域。因此,现在可以确定癌细胞的 DNA 核苷酸序列,并将其与正常细胞的序列进行比较,以鉴定参与癌症发生的遗传变化。实际上,在过去的 3 年中,已经确定了超过 15 种肿瘤类型的基因组。所获得的结果不仅鉴定了新的癌症驱动基因、新的易感性基因,还详细地鉴定了基因组结构重排。在这篇综述中,我们将简要介绍新的测序技术。并对癌症基因组和外显子组测序的最新发现进行总结。最后,将讨论这些新技术在癌症预后、诊断和治疗中的潜在应用。