Abstract

Colorectal cancer (CRC) ranks third in the incidences of cancer morbidity and mortality worldwide. CRC is rather heterogeneous with regard to molecular genetic characteristics and pathogenic pathways. A wide spectrum of biomarkers is used for molecular subtype determination, prognosis, and estimation of sensitivity to different drugs in practice. These biomarkers can include germline and somatic mutations, chromosomal aberrations, genomic abnormalities, gene expression alterations at mRNA or protein level and changes in DNA methylation status. In the present review we discuss the most important and well-studied CRC biomarkers, and their potential clinical significance and current approaches to molecular classification of colorectal tumors.

Highlights

  • Colorectal cancer (CRC) is one of the most common cancers in the world [1]

  • Several molecular genetic markers, which are currently used for CRC diagnosis, prognosis and treatment assignment, have been identified

  • Numerous molecular genetic studies of CRC have revealed many genes that are characterized by high frequency of mutations (KRAS, NRAS, BRAF, PIK3CA, APC, TP53, SMAD2, SMAD4, ARID1A, SOX9, FAM123B/WTX, and FBXW7), copy number alterations (ERBB2 and IGF2), methylation status changes (MLH1), impaired expression at the mRNA or protein level, and translocations (NAV2/ TCF7L1) [2, 3]

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Summary

Introduction

Colorectal cancer (CRC) is one of the most common cancers in the world [1]. Despite the fact that CRC is histologically homogeneous, each tumor has a unique molecular profile, which is characterized by various genetic and epigenetic changes. UM tumors are characterized by an increased frequency of mutations in APC and KRAS genes and a reduced frequency of www.impactjournals.com/oncotarget activating mutation BRAF V600E [63].

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