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Battaglin et al. J Cancer Metastasis Treat 2018;4:12 Journal of Cancer
DOI: 10.20517/2394-4722.2018.04 Metastasis and Treatment

Review Open Access

Pharmacogenomics in colorectal cancer: current
role in clinical practice and future perspectives

Francesca Battaglin , Alberto Puccini , Madiha Naseem , Marta Schirripa , Martin D. Berger , Ryuma
1
1
1,3
2
1,2
Tokunaga , Michelle McSkane , Taline Khoukaz , Shivani Soni , Wu Zhang , Heinz-Josef Lenz 1
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1
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1 Division of Medical Oncology, Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California,
Los Angeles, CA 90033, USA.
2 Medical Oncology Unit 1, Clinical and Experimental Oncology Department, Veneto Institute of Oncology IOV - IRCCS, Padua
35128, Italy.
3 Department of Medical Oncology, University Hospital of Bern, Bern 3010, Switzerland.
Correspondence to: Prof. Heinz-Josef Lenz, Division of Medical Oncology, Norris Comprehensive Cancer Center, Keck School
of Medicine, University of Southern California, 1441 Eastlake Avenue, Suite 3456, Los Angeles, CA 90033, USA. E-mail: lenz@
med.usc.edu
How to cite this article: Battaglin F, Puccini A, Naseem M, Schirripa M, Berger MD, Tokunaga R, McSkane M, Khoukaz T, Soni
S, Zhang W, Lenz HJ. Pharmacogenomics in colorectal cancer: current role in clinical practice and future perspectives. J Cancer
Metastasis Treat 2018;4:12. http://dx.doi.org/10.20517/2394-4722.2018.04
Received: 26 Jan 2018 First Decision: 8 Feb 2018 Revised: 10 Feb 2018 Accepted: 11 Feb 2018 Published: 7 Mar 2018
Science Editor: Godefridus J. Peters Copy Editor: Jun-Yao Li Production Editor: Cai-Hong Wang

Abstract
The treatment scenario of colorectal cancer (CRC) has been evolving in recent years with the introduction of
novel targeted agents and new therapeutic strategies for the metastatic disease. An extensive effort has been
directed to the identification of predictive biomarkers to aid patients selection and guide therapeutic choices.
Pharmacogenomics represents an irreplaceable tool to individualize patients treatment based on germline and tumor
acquired somatic genetic variations able to predict drugs response and risk of toxicities. The growing knowledge
of CRC molecular characteristics and complex genomic makeup has played a crucial role in identifying predictive
pharmacogenomic biomarkers, while supporting the rationale for the development of new drugs and treatment
combinations. Clinical validation of promising biomarkers, however, is often an issue. More recently, a deeper
understanding of resistance mechanisms and tumor escape dynamics under treatment pressure and the availability
of novel technologies are opening new perspectives in this field. This review aims to present an overview of current
pharmacogenomic biomarkers and future perspectives of pharmacogenomics in CRC, in an evolving scenario
moving from a single drug-gene interactions approach to a more comprehensive genome-wide approach, comprising
genomics and epigenetics.

Keywords: Colorectal cancer, pharmacogenomics, RAS, BRAF, microsatellite instability, dihydropyrimidine dehydrogenase,
UDP-Glucuronosyltrasferase A1, epidermal growth factor receptor, vascular endothelial growth factor, DNA methylation

© The Author(s) 2018. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made.

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