Table 2.
General description of the somatic mutations found in patients from Latin America.
| Frequency | ||
|---|---|---|
| N = 342 | % | |
| Country | ||
| Brazil | 133 | 38.89 |
| Mexico | 127 | 37.13 |
| Chile | 26 | 7.60 |
| Colombia | 24 | 7.02 |
| Peru | 21 | 6.14 |
| Costa Rica | 11 | 3.22 |
| Gene | ||
| TP53 | 200 | 58.48 |
| PIK3CA | 87 | 25.44 |
| FLT3 | 16 | 4.68 |
| AKT1 | 12 | 3.51 |
| CDKN2A | 7 | 2.05 |
| CDH1 | 6 | 1.75 |
| PTEN | 6 | 1.75 |
| RB1 | 5 | 1.46 |
| NOTCH1 | 3 | 0.88 |
| Mutation type | ||
| Missense | 191 | 55.85 |
| Intronic | 58 | 16.96 |
| Frameshift | 31 | 9.06 |
| Nonsense | 25 | 7.31 |
| Synonymous | 20 | 5.85 |
| Deletion | 9 | 2.63 |
| Insertion | 4 | 1.17 |
| In frame | 2 | 0.58 |
| Stop codon lost | 1 | 0.29 |
| Uncategorized | 1 | 0.29 |
| COSMIC ID | ||
| Yes | 166 | 48.54 |
| Unknown | 2 | 0.58 |
| Not reported | 99 | 28.95 |
| Without information | 75 | 21.93 |
| Reference sequence ID | ||
| Yes | 192 | 56.14 |
| No | 74 | 21.64 |
| Without information | 76 | 22.22 |
| Clinvar | ||
| Not reported | 89 | 26.02 |
| Pathogenic | 96 | 28.07 |
| Drug response | 22 | 6.43 |
| Benign | 23 | 6.72 |
| Uncertain | 16 | 4.68 |
| Without information | 91 | 26.61 |
| Conflict interpretation | 8 | 2.34 |