Table 2.
ERBB2 variants identified in multiple cancer cases.
| MPN Cohort (n = 292) | Non-MPN Cancer Cohort (n = 1112) | Validation Control Cohort (n = 1587) | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Variant | Observed (%) | Expected # | O/E Ratio | Observed (%) | Expected # | O/E Ratio | Observed (%) | Expected # | O/E Ratio |
| I654V | 6 (2.05) | 2.81 | 2.13 | 17 (1.53) | 10.72 | 1.59 | 17 (1.07) | 15.29 | 1.11 |
| A386D | 2 (0.68) | 2.12 | 0.94 | 8 (0.72) | 8.09 | 0.99 | 13 (0.82) | 11.55 | 1.13 |
| E930D | 2 (0.68) | 0.30 | 6.67 | 2 (0.18) | 1.14 | 1.75 | 1 (0.06) | 1.63 | 0.61 |
| P489L | 1 (0.34) | 0.42 | 2.36 | 3 (0.27) | 1.61 | 1.86 | 2 (0.13) | 2.30 | 0.87 |
| R1161Q | 0 | 0.44 | NA | 3 (0.27) | 1.69 | 1.78 | 2 (0.13) | 2.41 | 0.83 |
| R143Q | 0 | 0.28 | NA | 2 (0.18) | 1.10 | 1.89 | 0 | 1.51 | NA |
| I961T | 0 | 0.004 | NA | 2 (0.18) | 0.02 | 113 | 0 | 0.03 | NA |
# based on global MAF.