Table 1.
Evaluation of germline ERBB2 variants identified and cancer cases and controls.
| Diagnosis | N Cases | ERBB2 MAF < 0.01 | ERBB2 MAF < 0.005 |
| MPN | 236 | 21 (8.9%) | 11 (4.7%) |
| CMML | 92 | 6 (6.5%) | 2 (2.2%) |
| MDS/AML | 771 | 30 (3.9%) | 9 (1.2%) |
| AA | 61 | 3 (4.9%) | 2 (3.3%) |
| CML | 27 | 1 (3.7%) | 0 |
| Lymphoid | 161 | 6 (3.7%) | 1 (0.06) |
| Control (Non-Blood Cancer) | 256 | 7 (2.7%) | 3 (1.2%) |
| All Blood Cancer | 1348 | 67 (5.0%) | 26 (1.9%) |
| Non-MPN Blood Cancer | 1112 | 46 (4.1%) | 14 (1.3%) |
| Validation Control Cohort | 1587 | 83 (5.2%) | 47 (3.0%) |
| Comparison | Odds ratio (95% confidence interval), p value | ||
| MPN vs. Control | 3.5 (1.4 to 8.3), p = 0.0053 | 4.1 (1.1 to 13.5), p = 0.0313 | |
| MPN vs. MDS/AML | 2.4 (1.4 to 4.0), p = 0.0028 | 4.1 (1.7 to 10.1) p = 0.0018 | |
| MPN vs. Non-MPN Blood Cancer | 2.3 (1.3 to 3.9) p = 0.0028 | 3.8 (1.7 to 8.6) p = 0.0010 | |
| MPN vs. Validation Control | 1.7 (1.0 to 2.8) p = 0.0400 | 1.6 (0.8 to 3.1) p = 0.1698 | |
AML, acute myeloid leukemia; AA, aplastic anemia; CMML, chronic myelomonocytic leukemia; MAF, minor allele frequency; MDS, myelodysplastic syndrome; MPN, myeloproliferative neoplasm.