Table 3.
Frequency of most prevalent single nucleotide variant (SNV) gene alterations.
| Gene | Total Number of Samples n | 82 | 295 |
|---|---|---|---|
| Function | Alaska Native n (%) | TCGA Nature 2014 n (%) | |
| TP53 | |||
| R282W | Missense | 3 (3.7) | 5 (1.7) |
| R267W | Missense | 2 (2.4) | 0 (0) |
| G245S | Missense | 2 (2.4) | 2 (0.7) |
| H193R | Missense | 1 (1.2) | 2 (0.7) |
| R273H | Missense | 1 (1.2) | 10 (3.4) |
| R196* | Nonsense | 1 (1.2) | 3 (1.0) |
| PIK3CA | |||
| E545K | Missense | 7 (8.5) | 12 (4.1) |
| H1047R | Missense | 3 (3.7) | 13 (4.4) |
| K111N | Missense | 1 (1.2) | 2 (0.7) |
| R88Q | Missense | 1 (1.2) | 4 (1.4) |
| PTEN | |||
| S10N | Missense | 1 (1.2) | 0 (0) |
| R130Q | Missense | 1 (1.2) | 1 (0.3) |
| 1026+2delT | IF deletion | 1 (1.2) | 0 (0) |
| Q214* | Truncating | 1 (1.2) | 0 (0) |
| KRAS | |||
| G12D/A | Missense | 2 (2.4) | 12 (4.1) |
| G13D | Missense | 1 (1.2) | 10 (3.4) |
| A146T | Missense | 1 (1.2) | 2 (0.7) |
| STK11 | |||
| F354L | Missense | 6 (7.3) | 0 (0) |
| CTNNB1 | |||
| S37F | Missense | 2 (2.4) | 2 (0.7) |
| D32N | Missense | 1 (1.2) | 1 (0.3) |
| G34R | Missense | 1 (1.2) | 2 (0.7) |
Abbreviations: IF, in frame. Percentage (%) was calculated as the frequency of samples with said gene alteration (n) divided by the total of samples that passed DNA quality control for SNVs.