Table 1.
Frequency of mutations in the RAS-MAPK genes of different adult and childhood cancers (source: COSMIC database, April 6th, 2020)
| Level | Gene | Mutations | Neuroblastoma (%) | Brain (%) | Breast (%) | Colorectal (%) | Blood (%) | Lung (%) | Skin (%) |
|---|---|---|---|---|---|---|---|---|---|
| Receptor | ALK | F1174L, R1275Q, R1245V | 6.3 | 0.8 | 7.3 | 5.7 | 5.6 | 4.4 | 9.1 |
| Protein adaptor | SHC1 | E343D | 0.1 | 0.1 | 0.6 | 2.0 | 0.2 | 0.7 | 1.0 |
| GRB2 | 0.4 | 2.2 | 0.6 | 1.0 | 0.3 | 0.9 | |||
| PTPN11 | Mutations in SH2 and PTP domains | 1.0 | 1.7 | 1.3 | 1.7 | 4.7 | 0.9 | 2.4 | |
| SOS | SOS1 | N993Sfs*5 | 0.1 | 0.7 | 3.3 | 3.5 | 1.3 | 2.1 | 3.7 |
| RAS | N-RAS | Q61K/E/L, G13R, A59T | 0.7 | 1.0 | 0.5 | 3.7 | 9.5 | 0.8 | 15.0 |
| K-RAS | G12V | 0.8 | 1.4 | 32.4 | 4.9 | 14.8 | 2.8 | ||
| H-RAS | Q61K | 0.1 | 0.0 | 0.6 | 0.9 | 0.2 | 0.5 | 10.6 | |
| RAF | BRAF | V600E. F595L. R719P | 0.1 | 4.7 | 2.1 | 12.3 | 8.2 | 2.2 | 41.0 |
| RAF1 | L397V | 0.1 | 0.3 | 1.6 | 2.3 | 0.6 | 1.0 | 3.1 | |
| ARAF | 0.2 | 0.6 | 2.0 | 0.3 | 1.4 | 1.9 | |||
| MEK1/2 | MAP2K1 | K57N | 0.3 | 1.8 | 1.9 | 2.2 | 0.7 | 4.7 | |
| MAP2K2 | c.920-66G > T | 0.1 | 0.1 | 0.8 | 1.3 | 0.5 | 0.6 | 2.1 | |
| ERK1/2 | MAPK3 | E367D | 0.1 | 0.1 | 0.4 | 1.0 | 0.2 | 0.3 | 1.4 |
| MAPK1 | 0.4 | 1.6 | 1.3 | 1.1 | 0.3 | 1.5 | |||
| NF | NF1 | Inactivating nonsense mutations | 1.2 | 7.2 | 6.1 | 9.5 | 3.5 | 7.2 | 16.8 |