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World J Gastroenterol. Apr 7, 2013; 19(13): 2011-2018
Published online Apr 7, 2013. doi: 10.3748/wjg.v19.i13.2011
Clinical relevance of cancer genome sequencing
Chee Seng Ku, David N Cooper, Dimitrios H Roukos
Chee Seng Ku, Department of Medical Epidemiology and Biostatistics, Karolinska Institute, SE-17177 Stockholm, Sweden
David N Cooper, Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4YU, United Kingdom
Dimitrios H Roukos, Department of Surgery, Ioannina University School of Medicine, 45110 Ioannina, Greece
Dimitrios H Roukos, Centre for Biosystems and Synthetic Genomic Network Medicine, Centre for BioSystems and Genomic Network Medicine, Ioannina University, 45110 Ioannina, Greece
Author contributions: All authors contributed to the writing of this manuscript, and all of them have read and approved the final version to be published.
Correspondence to: Dimitrios H Roukos, Associate Professor, Department of Surgery, Ioannina University School of Medicine, 45110 Ioannina, Greece. droukos@cc.uoi.gr
Telephone: +30-26510-07423 Fax: +30-26510-07094
Received: June 7, 2012
Revised: September 21, 2012
Accepted: September 29, 2012
Published online: April 7, 2013

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 whole-genome 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.

Keywords: Next-generation sequencing, Exome, Cancer, Diagnostics, Familial cancer syndrome, Somatic mutation