Table 1.
Mutations that are correlated in colorectal carcinogenesis
| Gene | Chromosomal location | Type of mutation | Prevalence (%) | Function of gene product |
|---|---|---|---|---|
| KRAS | 12p12 | Point mutation (codons 12, 13 of exon 2) | 40 | Cell proliferation and survival |
| PIK3CA | 3q26 | Point mutations (E545K on exon 9, H1047R on exon 20) | 15–30 | Cell proliferation and survival |
| CDK8 | 13q12 | Gene amplification | 10–15 | β-Catenin activation |
| EGFR | 7p12 | Gene amplification | 5–15 | Cell proliferation and survival |
| BRAF | 7q34 | Point mutations activating kinase activity (most commonly V600E) | 5–10 | Cell proliferation and survival |
| CMYC | 8q24 | Gene amplification | 5–10 | Cell proliferation and survival |
| CCNE1 | 19q12 | Gene amplification | 5 | Cell proliferation and survival |
| NRAS | 1p13 | Point mutation | <5 | Cell proliferation and survival |
| CTNNB1 | 3p22 | Stabilizing point mutations and in-frame deletions near N terminus | <5 | Regulation of Wnt pathway target genes that promote tumor growth and invasion |
| ERBB2 (HER2) | 17q21 | Gene amplification | <5 | Cell proliferation and survival |
| MYB | 6q22-q23 | Gene amplification | <5 | Stimulates growth of intestinal stem cells |