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Copyright ©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 6, 2018; 6(15): 869-881
Published online Dec 6, 2018. doi: 10.12998/wjcc.v6.i15.869
Biomarkers in colorectal cancer: Current clinical utility and future perspectives
Marco Vacante, Antonio Maria Borzì, Francesco Basile, Antonio Biondi
Marco Vacante, Antonio Maria Borzì, Francesco Basile, Antonio Biondi, Department of General Surgery and Medical-Surgical Specialties, University of Catania, Catania 95123, Italy
Author contributions: Vacante M, Basile F and Biondi A contributed to the paper regarding conception and design of the study, literature review and analysis, drafting and critical revision and editing, Borzì AM contributed to literature review, editing and critical revision; all authors approved the final version.
Conflict-of-interest statement: No potential conflicts of interest.
Open-Access: This article is an open-access article which was selected byan in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Antonio Biondi, PhD, Full Professor, Department of General Surgery and Medical-Surgical Specialties, University of Catania, Azienda Ospedaliero - Universitaria “Policlinico - Vittorio Emanuele” Via Santa Sofia 76, Catania 95123, Italy. abiondi@unict.it
Telephone: +39-95-7435151 Fax: +39-95-457345
Received: September 1, 2018
Peer-review started: September 1, 2018
First decision: October 11, 2018
Revised: October 30, 2018
Accepted: November 7, 2018
Article in press: November 7, 2018
Published online: December 6, 2018
Processing time: 98 Days and 4.2 Hours
Abstract

Colorectal cancer (CRC) is a major cause of cancer death worldwide. CRC has poor prognosis and there is a crucial need for new diagnostic and prognostic biomarkers to avoid CRC-related deaths. CRC can be considered a sporadic disease in most cases (75%-80%), but it has been suggested that crosstalk between gene mutations (i.e., mutations of BRAF, KRAS, and p53 as well as microsatellite instability) and epigenetic alterations (i.e., DNA methylation of CpG island promoter regions) could play a pivotal role in cancer development. A number of studies have focused on molecular testing to guide targeted and conventional treatments for patients with CRC, sometimes with contrasting results. Some of the most useful innovations in the management of CRC include the possibility to detect the absence of KRAS, BRAF, NRAS and PIK3CA gene mutations with the subsequent choice to administer targeted adjuvant therapy with anti-epidermal growth factor receptor antibodies. Moreover, CRC patients can benefit from tests for microsatellite instability and for the detection of loss of heterozygosity of chromosome 18q that can be helpful in guiding therapeutic decisions as regards the administration of 5-FU. The aim of this review was to summarize the most recent evidence on the possible use of genetic or epigenetic biomarkers for diagnosis, prognosis and response to therapy in CRC patients.

Keywords: Biomarkers; Colorectal cancer; Epigenetics; Tumor markers; DNA methylation

Core tip: Colorectal cancer (CRC) is one of the leading causes of cancer death in the world today. Therefore, any improvement in early diagnosis, selection of appropriate treatment regimen, and effective follow up can be crucial in decreasing related mortalities. This review discusses the most useful and promising genetic and epigenetic biomarkers for CRC. There is growing evidence that these biomarkers could help future development of more personalized treatment approaches.