Table 4.
Most frequent mutations (>2.0% prevalence) found in FORCE-1 samples and comparison with different TCGA cohorts.
| Gene | Aminoacidic Mutational Change | Total Samples n | 101 | 100 | 30 | 295 | 66 |
|---|---|---|---|---|---|---|---|
| Function | Chilean FORCE-1 n (%) | UHK TCGA n (%) | UTOKIO TCGA n (%) | TCGA Nature 2014 n (%) | Brazil TCGA n (%) | ||
| TP53 | R273C | Missense | 4 (4.0%) | 4 (4.0%) | NR | 6 (2.0%) | 1 (1.5%) |
| R213 * | Nonsense | 3 (3.0%) | 1 (1.0%) | NR | 5 (1.7%) | NR | |
| R175H | Missense | 2 (2.0%) | NR | 1 (3.3%) | 6 (2.0%) | 1 (1.5%) | |
| R248Q | Missense | 2 (2.0%) | 4 (4.0%) | NR | 5 (1.7%) | 3 (4.5%) | |
| R248W | Missense | 2 (2.0%) | 1 (1.0%) | NR | 1 (0.3%) | NR | |
| P98S | Missense | 2 (2.0%) | NR | NR | NR | NR | |
| Y220H | Missense | 2 (2.0%) | NR | NR | NR | 2 (3%) | |
| C242F | Missense | 2 (2.0%) | NR | NR | NR | NR | |
| PIK3CA | E542K | Missense | 4 (4.0%) | NR | NR | 5 (1.7%) | 2 (3%) |
| C378R | Missense | 2 (2.0%) | NR | NR | 1 (0.3%) | NR | |
| E545K | Missense | 2 (2.0%) | NR | NR | 11 (3.7%) | 2 (3%) | |
| R88Q | Missense | 2 (2.0%) | NR | NR | 4 (1.4%) | 1 (1.5%) | |
| T1025A | Missense | 2 (2.0%) | NR | NR | NR | NR | |
| VHL | S68L | Missense | 6 (5.9%) | NR | NR | NR | NR |
| NRAS | G13V | Missense | 5 (5.0%) | NR | NR | NR | NR |
| G12D | Missense | 2 (2.0%) | NR | NR | NR | NR | |
| KRAS | G12D | Missense | 3 (3.0%) | 2 (2%) | NR | 7 (2.4%) | 1 (1.5%) |
| BRAF | D594G | Missense | 3 (3.0%) | NR | NR | NR | NR |
| RHOA | Y42C | Missense | 3 (3.0%) | NR | 4 (13.3%) | 3 (1%) | NR |
| APC | D156fs | Frameshift deletion | 2 (2.0%) | NR | NR | NR | NR |
NR Not reported. * indicates nonsense mutation.