Selected biomarkers that have been evaluated in colorectal cancer
| Biomarker | Molecular lesion | Frequency in CRC | Prediction | Prognosis | Diagnosis |
| KRAS | Codon 12/13 activating mutations; rarely codons 61, 117, 146 | 40% | Yes | Possible | – |
| BRAF | V600E activating mutation | 10% | Probable | Probable | Lynch syndrome |
| PIK3CA | Helical and kinase domain mutations | 20% | Possible | Possible | – |
| PTEN | Loss of protein by IHC | 30% | Possible | – | – |
| Microsatellite instability (MSI) | Defined as >30% unstable loci in the NCI consensus panel or >40% unstable loci in a panel of mononucleotide microsatellite repeats9 | 15% | Probable | Yes | Lynch Syndrome |
| Chromosome instability (CIN) | Aneuploidy | 70% | Probable | Yes | – |
| 18qLOH | Deletion of the long arm of chromosome 18 | 50% | Probable | Probable | – |
| CpG island methylator phenotype (CIMP) | Methylation of at least three loci from a selected panel of five markers | 15% | +/− | +/− | – |
| Vimentin (VIM) | Methylation | 75% | – | – | Early Detection |
| TGFBR2 | Inactivating mutations | 30% | – | – | – |
| TP53 mutations | Inactivating mutations | 50% | – | – | – |
| APC mutations | Inactivating mutations | 70% | – | – | FAP |
| CTNNB1 (β-catenin) | Activating mutations | 2% | – | – | – |
| Mismatch repair genes | Loss of protein by IHC; methylation; inactivating mutations | 1–15% | – | – | Lynch syndrome |
CRC, colorectal cancer; FAP, familial adenomatous polyposis; IHC, immunohistochemistry.