Table 2. Comparison of the incidence of top-ranked genetic alteration of this study with the TCGA database. Muse, mutect, somaticsniper, and varscan were used to determine true mutations.
| SNUH pan-caner panel (n=20) | Gene | TCGA (n=496) | ||||||
|---|---|---|---|---|---|---|---|---|
| Truncating | Inframe | Missense | Sum | Truncating | Inframe | Missense | Sum | |
| 0 (0.0) | 0 (0.0) | 5 (25.0) | 5 (25.0) | SPOP | 1 (0.2) | 0 (0.0) | 50 (10.1) | 51 (10.3) |
| 1 (5.0) | 0 (0.0) | 3 (15.0) | 4 (20.0) | KMT2D | 16 (3.2) | 1 (0.2) | 12 (2.4) | 29 (5.8) |
| 0 (0.0) | 0 (0.0) | 3 (15.0) | 3 (15.0) | MAP3K1 | 1 (0.2) | 0 (0.0) | 2 (0.4) | 3 (0.6) |
| 0 (0.0) | 0 (0.0) | 3 (15.0) | 3 (15.0) | TSHR | 0 (0.0) | 0 (0.0) | 1 (0.2) | 1 (0.2) |
| 0 (0.0) | 1 (5.0) | 2 (10.0) | 3 (15.0) | FANCD2 | 1 (0.2) | 0 (0.0) | 1 (0.2) | 2 (0.4) |
| 0 (0.0) | 0 (0.0) | 3 (15.0) | 3 (15.0) | ATM | 3 (0.6) | 1 (0.2) | 13 (2.6) | 17 (3.4) |
| 0 (0.0) | 0 (0.0) | 3 (15.0) | 3 (15.0) | FANCA | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
| 0 (0.0) | 1 (5.0) | 2 (10.0) | 3 (15.0) | BRAF | 0 (0.0) | 1 (0.2) | 5 (1.0) | 6 (1.2) |
| 0 (0.0) | 0 (0.0) | 3 (15.0) | 3 (15.0) | FANCG | 0 (0.0) | 0 (0.0) | 1 (0.2) | 1 (0.2) |
| 0 (0.0) | 0 (0.0) | 2 (10.0) | 2 (10.0) | NOTCH4 | 0 (0.0) | 0 (0.0) | 2 (0.4) | 2 (0.4) |
| 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | ERG | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
| 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | NRG1 | 1 (0.2) | 0 (0.0) | 3 (0.6) | 4 (0.8) |
| 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | AR | 0 (0.0) | 0 (0.0) | 2 (0.4) | 2 (0.4) |
Values are presented as number (%).
SNUH, Seoul National University Hospital; TCGA, The Cancer Genome Atlas.