Molecular characterization and biomarker identification in colorectal cancer: Toward realization of the precision medicine dream

Abstract

Colorectal cancer (CRC) is a major public health problem, both in the USA and globally. Over the past 20 years, significant advances have been made in the treatment of patients with metastatic CRC (mCRC). Recent efforts in the field of biomarkers have focused on the development of molecular diagnostics to define the subset of patients with mCRC that is likely to derive most benefit from anti-EGFR therapy. Herein, we review the recent advancements in molecular stratification of CRC and the role of current as well as emerging biomarkers in this disease. It is now clear that the presence of activating mutations in the KRAS and NRAS genes serves as reliable predictive markers for resistance to anti-EGFR therapy in mCRC. It is also clear that further improvements in the survival of mCRC patients will probably be made possible only with identification of new predictive molecular biomarkers and their evaluation using rational and innovative clinical trials. The recent advances in DNA sequencing technology and “omics”-based approaches have provided promising new strategies for the development of novel molecular biomarkers in this disease.