Table 3

- Somatic mutations in colorectal cancer from Saudi patients.

GenesMutation rates (mutation type)Sample sizesMolecular methodologiesReferences
KRAS56.0% (point)150PCR followed by amplicon hybridization68
28.6% (point)755PCR and DNA sequencing69
30.1% (point)498PCR and DNA sequencing70
50.0% (point)194Biocartis IdyllaTm71
45.2% (point)93NGS72
42.2% (point)83PCR followed by amplicon hybridization73
49.6% (point)248Biocartis IdyllaTm74
35.0% (point)99Ion PGM sequencing75
32.5% (point)80Sanger sequencing76
42.85% (point)56HRM analysis, Sanger sequencing, and shifted termination assays77
42.0% (point)300LCD-array78
43.0% (point)51Ion AmpliSeq NGS Panel79
25.0% (point)99Ion AmpliSeq™80
NRAS2.2% (point)93NGS72
2.0% (point)248Biocartis IdyllaTm74
BRAF2.5% (point)757PCR and DNA sequencing69
2.4% (point)498PCR and DNA sequencing70
2.2% (point)93NGS72
0.4% (point)248Biocartis IdyllaTm74
PIK3CA19.0% (point)99Ion PGM Sequencing75
12.2% (point)‎418Sanger sequencing81
HER2 (ERBB2)0.0% (gene amplification)114FISH82
51.0% (point)‎99Ion AmpliSeq™80
CCND11.9% (gene amplification)114FISH82
EGFR11.0% (point)99Ion PGM Sequencing75
1.1% (gene amplification)114FISH82
40.0% (point)99Ion AmpliSeq™80
C-MYC9.0% (gene amplification)114FISH82
MSI11.2%741Microsatellite analysis by multiplex fluorescent PCR69
10.9%494Microsatellite analysis by multiplex fluorescent PCR70
20.2%388Microsatellite analysis by multiplex fluorescent PCR81
9.7%992Microsatellite analysis by multiplex fluorescent PCR83
11.6%284Pentaplex MSI analysis system84
11.3%‎807Microsatellite analysis by multiplex fluorescent PCR and immunohistochemistry assessment20
TP5365.0% (point)99Ion PGM sequencing75
33.7% (point)386Sanger sequencing81
19.0% (point)99AmpliSeq comprehensive80
APC36.0% (point)99Ion PGM sequencing75
66.0% (point)99AmpliSeq comprehensive cancer panel80
SMAD411.0% (point)99Ion PGM sequencing75
3.0% (point)‎99AmpliSeq comprehensive cancer panel80
13.6% (point)‎426High depth capture sequencing83
60.8% (SMAD4 gene and 18q deletion)991FISH83
PTEN13.0% (point)99Ion PGM sequencing75
3.0% (point)99AmpliSeq comprehensive cancer panel80
66.1% (point)386Sanger sequencing81
CIMPCIMP-H=4.8%; CIMP-L=44.6%; CIMP-negative=50.6%500Real-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