Genetic-based biomarkers and next-generation sequencing: the future of personalized care in colorectal cancer

Per Med. 2011 May 1;8(3):331-345. doi: 10.2217/pme.11.16.

Abstract

The past 5 years have witnessed extraordinary advances in the field of DNA sequencing technology. What once took years to accomplish with Sanger sequencing can now be accomplished in a matter of days with next-generation sequencing (NGS) technology. This has allowed researchers to sequence individual genomes and match combinations of mutations with specific diseases. As cancer is inherently a disease of the genome, it is not surprising to see NGS technology already being applied to cancer research with promises of greater understanding of carcinogenesis. While the task of deciphering the cancer genomic code remains ongoing, we are already beginning to see the application of genetic-based testing in the area of colorectal cancer. In this article we will provide an overview of current colorectal cancer genetic-based biomarkers, namely mutations and other genetic alterations in cancer genome DNA, discuss recent advances in NGS technology and speculate on future directions for the application of NGS technology to colorectal cancer diagnosis and treatment.

Keywords: EGFR inhibition; adenocarcinoma; antineoplastic agents; biological analysis; biomarkers; cetuximab; colorectal neoplasms; etiology genetics; genomics; humans; panitumumab; sequencing; targeted therapies; tumor markers.