Topic Highlight
Copyright ©2014 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Jan 28, 2014; 20(4): 943-956
Published online Jan 28, 2014. doi: 10.3748/wjg.v20.i4.943
Genetic and epigenetic biomarkers for diagnosis, prognosis and treatment of colorectal cancer
Fabio Coppedè, Angela Lopomo, Roberto Spisni, Lucia Migliore
Fabio Coppedè, Angela Lopomo, Lucia Migliore, Department of Translational Research and New Technologies in Medicine and Surgery, Division of Medical Genetics, University of Pisa, 56126 Pisa, Italy
Fabio Coppedè, Lucia Migliore, Istituto Toscano Tumori (ITT), 50139 Florence, Italy
Roberto Spisni, Department of Surgery, Medical, Molecular, and Critical Area Pathology, University of Pisa, 56126 Pisa, Italy
Author contributions: Coppedè F wrote the introduction and the sections of epigenetic biomarkers and future perspectives; Lopomo A wrote the section of genetic biomarkers; Spisni R and Migliore L critically revised the entire manuscript.
Supported by T Istituto Toscano Tumori (ITT) No. Prot.AOOGRT/325424/Q.80.110 16/12/2009, ‘‘Correlation among epigenetic, environmental and genetic factors in colorectal carcinoma’’
Correspondence to: Lucia Migliore, Professor, Department of Translational Research and New Technologies in Medicine and Surgery, Division of Medical Genetics, University of Pisa, Via S. Giuseppe 22, 56126 Pisa, Italy. lucia.migliore@med.unipi.it
Telephone: +39-50-2211029 Fax: +39-50-2211034
Received: October 2, 2013
Revised: November 21, 2013
Accepted: December 5, 2013
Published online: January 28, 2014
Processing time: 116 Days and 4.3 Hours
Abstract

Colorectal cancer (CRC) is one of the most common cancer worldwide and results from the accumulation of mutations and epimutations in colonic mucosa cells ultimately leading to cell proliferation and metastasis. Unfortunately, CRC prognosis is still poor and the search of novel diagnostic and prognostic biomarkers is highly desired to prevent CRC-related deaths. The present article aims to summarize the most recent findings concerning the use of either genetic or epigenetic (mainly related to DNA methylation) biomarkers for CRC diagnosis, prognosis, and response to treatment. Recent large-scale DNA methylation studies suggest that CRC can be divided into several subtypes according to the frequency of DNA methylation and those of mutations in key CRC genes, and that this is reflected by different prognostic outcomes. Increasing evidence suggests that the analysis of DNA methylation in blood or fecal specimens could represent a valuable non-invasive diagnostic tool for CRC. Moreover, a broad spectrum of studies indicates that the inter-individual response to chemotherapeutic treatments depends on both epigenetic modifications and genetic mutations occurring in colorectal cancer cells, thereby opening the way for a personalized medicine. Overall, combining genetic and epigenetic data might represent the most promising tool for a proper diagnostic, prognostic and therapeutic approach.

Keywords: Colorectal cancer; Genetic biomarkers; Epigenetic biomarkers; DNA methylation; Diagnostic biomarkers; APC; MGMT; KRAS

Core tip: We summarize the most recent findings concerning genetic and epigenetic biomarkers of colorectal cancer. The article aims to provide an overview of the currently available diagnostic and prognostic biomarkers of the disease. Attention is also paid to the possible application of those biomarkers for the choice of the most proper therapy.