Genetic and epigenetic biomarkers for diagnosis, prognosis and treatment of colorectal cancer

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...

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Published inWorld journal of gastroenterology : WJG Vol. 20; no. 4; pp. 943 - 956
Main Author Fabio Coppedè Angela Lopomo Roberto Spisni Lucia Migliore
Format Journal Article
LanguageEnglish
Published United States Baishideng Publishing Group Co., Limited 28.01.2014
Subjects
Animals
Antineoplastic Agents - therapeutic use
biomarkers
Biomarkers, Tumor - genetics
cancer
Colorectal
Colorectal Neoplasms - drug therapy
Colorectal Neoplasms - genetics
Colorectal Neoplasms - metabolism
Colorectal Neoplasms - mortality
Colorectal Neoplasms - pathology
DNA Methylation
Epigenesis, Genetic
Epigenetic
Gene Expression Regulation, Neoplastic
Genetic
Genetic Predisposition to Disease
Genetic Testing
Humans
Molecular Targeted Therapy
Patient Selection
Phenotype
Precision Medicine
Predictive Value of Tests
Topic Highlight
Treatment Outcome
APC
Diagnostic biomarkers
MGMT
Colorectal cancer
DNA methylation
Epigenetic biomarkers
KRAS
Genetic biomarkers
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Summary: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.
Bibliography:Fabio Coppedè;Angela Lopomo;Roberto Spisni;Lucia Migliore;Department of Translational Research and New Technologies in Medicine and Surgery, Division of Medical Genetics, University of Pisa;Istituto Toscano Tumori (ITT);Department of Surgery, Medical, Molecular, and Critical Area Pathology, University of Pisa
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Telephone: +39-50-2211029 Fax: +39-50-2211034
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.
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
ISSN:1007-9327
2219-2840
DOI:10.3748/wjg.v20.i4.943