Review Article

Colorectal Cancer Biomarkers: Where Are We Now?

Table 1

Key characteristics of the three major CRC pathways.

Chromosomal instability (CIN)Microsatellite instability (MSI)CpG island methylation (CIMP)

Prevalence80–85%15–20%Up to 20%

Molecular EventsCharacterized by aneuploidy, inactivation of APC/b-catenin, clonal accumulation of genetic alterations in oncogenes and tumor suppressor genes, and allelic losses and gains [4951] Mutations/epimutations in the MMR genes result in extensive insertions and/or deletions in microsatellitesHypermethylation of multiple promoter CpG island loci, such as hMLH1 [9, 52]. BRAF mutations [53]

Clinical featuresAssociated with poor prognosis [54, 55]Associated with proximal tumor location, lower staging, high grade differentiation, and abundance of tumor infiltrating lymphocytes [56, 57]Correlates with proximal tumor location, higher prevalence in females, and BRAF mutations [5861]