Table 2.
The number and the proportion of unmatched mutations between the expert panel and WfG (in genes with ≥2 pathogenic mutations detected by both analyses).
| Gene names | Total number of mutations | Number of discordant results using WfG ver. 27, (n, %) | Number of discordant results using WfG ver. 33, (n, %) |
|---|---|---|---|
| NOTCH2 | 23 | 12 (52.2) | 3 (13.0) |
| SMARCA4 | 5 | 2 (40.0) | 0 (0.0) |
| SMAD4 | 3 | 1 (33.3) | 2 (66.7) |
| MAP3K1 | 10 | 3 (30.0) | 0 (0.0) |
| NRG1 | 7 | 2 (28.6) | 2 (28.6) |
| NOTCH3 | 11 | 3 (27.3) | 0 (0.0) |
| ERBB3 | 8 | 2 (25.0) | 2 (25.0) |
| EZH2 | 8 | 2 (25.0) | 2 (25.0) |
| EGFR | 9 | 2 (22.2) | 1 (11.1) |
| FBXW7 | 9 | 2 (22.2) | 2 (22.2) |
| KIT | 9 | 2 (22.2) | 1 (11.1) |
| TP53 | 107 | 22 (20.6) | 8 (7.5) |
| NOTCH1 | 16 | 3 (18.8) | 5 (31.3) |
| RB1 | 11 | 2 (18.2) | 0 (0.0) |
| STK11 | 15 | 2 (13.3) | 2 (13.3) |
| PTCH1 | 16 | 1 (6.3) | 1 (6.3) |
| Others | 518 | 17 (3.3) | 12 (2.3) |
| Total | 785 | 80 (10.2) | 43 (5.5) |