Clinical relevance of cancer genome sequencing

查看全文 作　　者：Chee Seng [1]Ku;David N [2]Cooper;Dimitrios H [3,4]Roukos 机构地区：[1]Department of Medical Epidemiology and Biostatistics,Karolinska Institute;[2]Institute of Medical Genetics,School of Medicine,Cardiff University;[3]Department of Surgery,Ioannina University School of Medicine;[4]Centre for Biosystems and Synthetic Genomic Network Medicine,Centre for BioSystems and Genomic Network Medicine,Ioannina University 出　　处：《World Journal of Gastroenterology》索引2013年第19卷第13期,共8页 摘　　要：The arrival of both high-throughput and bench-top next-generation sequencing technologies and sequence enrichment methods has revolutionized our approach to dissecting the genetic basis of cancer. These technologies have been almost invariably employed in wholegenome sequencing (WGS) and whole-exome sequencing (WES) studies. Both WGS and WES approaches have been widely applied to interrogate the somatic mutational landscape of sporadic cancers and identify novel germline mutations underlying familial cancer syndromes. The clinical implications of cancer genome sequencing have become increasingly clear, for example in diagnostics. In this editorial, we present these advances in the context of research discovery and discuss both the clinical relevance of cancer genome sequencing and the challenges associated with the adoption of these genomic technologies in a clinical setting. 关 键 词：Next-generation SEQUENCING EXOME CANCER Diagnostics FAMILIAL CANCER syndrome SOMATIC mutation