- Somatic mutations in colorectal cancer from Saudi patients.
| Genes | Mutation rates (mutation type) | Sample sizes | Molecular methodologies | References |
|---|---|---|---|---|
| KRAS | 56.0% (point) | 150 | PCR followed by amplicon hybridization | 68 |
| 28.6% (point) | 755 | PCR and DNA sequencing | 69 | |
| 30.1% (point) | 498 | PCR and DNA sequencing | 70 | |
| 50.0% (point) | 194 | Biocartis IdyllaTm | 71 | |
| 45.2% (point) | 93 | NGS | 72 | |
| 42.2% (point) | 83 | PCR followed by amplicon hybridization | 73 | |
| 49.6% (point) | 248 | Biocartis IdyllaTm | 74 | |
| 35.0% (point) | 99 | Ion PGM sequencing | 75 | |
| 32.5% (point) | 80 | Sanger sequencing | 76 | |
| 42.85% (point) | 56 | HRM analysis, Sanger sequencing, and shifted termination assays | 77 | |
| 42.0% (point) | 300 | LCD-array | 78 | |
| 43.0% (point) | 51 | Ion AmpliSeq NGS Panel | 79 | |
| 25.0% (point) | 99 | Ion AmpliSeq™ | 80 | |
| NRAS | 2.2% (point) | 93 | NGS | 72 |
| 2.0% (point) | 248 | Biocartis IdyllaTm | 74 | |
| BRAF | 2.5% (point) | 757 | PCR and DNA sequencing | 69 |
| 2.4% (point) | 498 | PCR and DNA sequencing | 70 | |
| 2.2% (point) | 93 | NGS | 72 | |
| 0.4% (point) | 248 | Biocartis IdyllaTm | 74 | |
| PIK3CA | 19.0% (point) | 99 | Ion PGM Sequencing | 75 |
| 12.2% (point) | 418 | Sanger sequencing | 81 | |
| HER2 (ERBB2) | 0.0% (gene amplification) | 114 | FISH | 82 |
| 51.0% (point) | 99 | Ion AmpliSeq™ | 80 | |
| CCND1 | 1.9% (gene amplification) | 114 | FISH | 82 |
| EGFR | 11.0% (point) | 99 | Ion PGM Sequencing | 75 |
| 1.1% (gene amplification) | 114 | FISH | 82 | |
| 40.0% (point) | 99 | Ion AmpliSeq™ | 80 | |
| C-MYC | 9.0% (gene amplification) | 114 | FISH | 82 |
| MSI | 11.2% | 741 | Microsatellite analysis by multiplex fluorescent PCR | 69 |
| 10.9% | 494 | Microsatellite analysis by multiplex fluorescent PCR | 70 | |
| 20.2% | 388 | Microsatellite analysis by multiplex fluorescent PCR | 81 | |
| 9.7% | 992 | Microsatellite analysis by multiplex fluorescent PCR | 83 | |
| 11.6% | 284 | Pentaplex MSI analysis system | 84 | |
| 11.3% | 807 | Microsatellite analysis by multiplex fluorescent PCR and immunohistochemistry assessment | 20 | |
| TP53 | 65.0% (point) | 99 | Ion PGM sequencing | 75 |
| 33.7% (point) | 386 | Sanger sequencing | 81 | |
| 19.0% (point) | 99 | AmpliSeq comprehensive | 80 | |
| APC | 36.0% (point) | 99 | Ion PGM sequencing | 75 |
| 66.0% (point) | 99 | AmpliSeq comprehensive cancer panel | 80 | |
| SMAD4 | 11.0% (point) | 99 | Ion PGM sequencing | 75 |
| 3.0% (point) | 99 | AmpliSeq comprehensive cancer panel | 80 | |
| 13.6% (point) | 426 | High depth capture sequencing | 83 | |
| 60.8% (SMAD4 gene and 18q deletion) | 991 | FISH | 83 | |
| PTEN | 13.0% (point) | 99 | Ion PGM sequencing | 75 |
| 3.0% (point) | 99 | AmpliSeq comprehensive cancer panel | 80 | |
| 66.1% (point) | 386 | Sanger sequencing | 81 | |
| CIMP | CIMP-H=4.8%; CIMP-L=44.6%; CIMP-negative=50.6% | 500 | Real-time PCR (MethyLight) | 70 |
MSI: microsatellite instability, CIMP: CpG island methylator phenotype, CIMP-H: CpG island methylator phenotype-high, CIMP-L: CpG island methylator phenotype-low, PCR: polymerase chain reaction, PGM: personal genome machine, FISH: fluorescence in situ hybridisation, HRM: high resolution melt, LCD: liquid-crystal display, NGS: next-generation sequencing