Table 1.
Overview of molecular biology tests used in colorectal cancer (CRC) diagnostics.
| Name/Method Target | Intended Use | Detected Property | Source Material | Molecular Method | Use/Availability |
|---|---|---|---|---|---|
| KRAS | therapeutic decision EGFR targeted therapy | KRAS mutations | FFPE or snap frozen tissue | Sequencing | clinical routine |
| KRAS | therapeutic decision EGFR targeted therapy | KRAS mutations | FFPE or snap frozen tissue | SnaPshot/strip assay, COLD-PCR, ARMS, PNA clamping; Digital PCR | studies |
| BRAF | chemotherapeutic susceptibility | BRAF mutations | FFPE or snap frozen tissue | sequencing, Real-time PCR | clinical routine |
| BRAF | chemotherapeutic susceptibility | BRAF mutations | FFPE or snap frozen tissue | Digital PCR, COLD-PCR | studies |
| MSI status PCR | chemotherapeutic susceptibility | MSI status | FFPE or snap frozen tissue | PCR | clinical routine |
| MSI status IHC | chemotherapeutic susceptibility | MSI status | FFPE tissue | IHC | clinical routine |
| MSI status 64 gene signature | chemotherapeutic susceptibility | MSI status | FFPE or snap frozen tissue | microarray | studies |
| MSI status miRNA | chemotherapeutic susceptibility | MSI status | FFPE or snap frozen tissue | oligonucleotide microarray | studies |
| TP53 mutation | screening | p53 mutation analysis | FFPE or snap frozen tissue | sequencing | clinical routine |
| TP53 mutation | screening | p53 mutation analysis | FFPE or snap frozen tissue | oligonucleotide microarray | studies |
| CIMP | probable screening/staging | methylation | FFPE or snap frozen tissue | methylation microarray | studies |
| Colo Print® | outcome and/or relapse prediction | 18-gene expression signature | fresh tumor tissue | Agilent 44K oligonucleotide arrays | studies |
| CRC subtype gene expression profile | chemotherapeutic susceptibility, subtyping | gene signature, intended for IHC/qRT-PCR | tumor tissue | sequencing, IHC | studies |
| NGS | therapeutic decision EGFR targeted therapy; subtyping | driver mutations | tumor tissue | parallel sequencing | studies |
| multiplex-serum protein array | screening | serum markers | blood serum | protein array | studies |
| miRNA assay for blood/stool | screening | miRNA expression level | plasma, stool | micro array | studies |
| Multitarget stool DNA test | screening, increasing sensitivity for colonoscopy | KRAS mutation, NDRG4, BMP3 methylation, hemoglobin immunoassay | stool | mutation and methylation analysis, immunoassay | under approval for clinical use |
| Epi proColon early detection assay | screening, increasing sensitivity for colonoscopy | Septin 9 DNA methylation assay | blood plasma | Real-time PCR | available for clinical use |
CIMP = CpG island methylator phenotype, FFPE = formalin fixed paraffin embedded, IHC = immunohistochemistry, miRNA = micro ribonucleic acid, MSI = microsatellite instability, PCR = polymerase chain reaction.