Table 3.
Comparison of heterozygous RECQL4 LOF variants in pediatric cancer patients and the gnomAD noncancer cohort
| Cancer diagnosis | Pediatric cancer patients | gnomAD noncancer cohort | Cancer risk | |||
|---|---|---|---|---|---|---|
| Carriers | Noncarriers | Carriers | Noncarriers | Odds ratio (95% CI) | P-value | |
| RECQL | ||||||
| Pan-cancer (all diagnoses) | 13 | 5549 | 388 | 133,799 | 0.81 (0.46, 1.4) | 0.52 |
| Osteosarcoma | 3 | 246 | 388 | 133,799 | 4.2 (1.3, 13.1) | 0.037* |
| BLM | ||||||
| Pan-cancer (all diagnoses) | 13 | 5549 | 279 | 133,908 | 1.1 (0.64, 2.0) | 0.65 |
| Osteosarcoma | 0 | 249 | 279 | 133,908 | 0 | 1 |
| WRN | ||||||
| Pan-cancer (all diagnoses) | 15 | 5547 | 273 | 133,914 | 1.3 (0.79, 2.2) | 0.29 |
| Osteosarcoma | 0 | 249 | 273 | 133,914 | 0 | 1 |
| RECQL4 | ||||||
| Pan-cancer (all diagnosesa) | 23 | 5539 | 385 | 133,802 | 1.4 (0.95, 2.2) | 0.098 |
| Osteosarcoma | 5 | 244 | 385 | 133,802 | 7.1 (2.9, 17.0) | 0.00087** |
| RECQL5 | ||||||
| Pan-cancer (all diagnoses) | 10 | 5552 | 284 | 133,903 | 0.85 (0.45, 1.6) | 0.76 |
| Osteosarcoma | 0 | 249 | 284 | 133,903 | 0 | 1 |
*P < 0.05.
**P < 0.005.
aPatient with pathogenic RB1 variant was excluded from statistical analysis.