Table 1.
Comparison of BRCA variants between Chinese and other populations
| BRCA1 variants | BRCA2 variants | |||||
|---|---|---|---|---|---|---|
| Origin | Total1 | Matched | Proportion2 | Total | Matched | Proportion |
| A. GnomAD database | ||||||
| 2,496 | 76 | 0.136 | 3,674 | 97 | 0.182 | |
| B. Multiple BRCA databases3 | ||||||
| Total | 22,095 | 371 | 0.666 | 28,648 | 305 | 0.574 |
| BED | 7,810 | 347 | 0.601 | 10,378 | 277 | 0.522 |
| BIC | 1,702 | 207 | 0.359 | 1,916 | 159 | 0.299 |
| BMD | 1,271 | 179 | 0.310 | 1,321 | 122 | 0.230 |
| Clinvar | 5,537 | 355 | 0.601 | 7,688 | 286 | 0.539 |
| ENIGMA | 2,712 | 206 | 0.357 | 3,442 | 178 | 0.335 |
| LOVD | 3,063 | 164 | 0.284 | 3,903 | 131 | 0.247 |
| C. CIMBA BRCA variants | ||||||
| 1,651 | 91 | 0.163 | 1,731 | 71 | 0.134 | |
| D. Latin American BRCA variants | ||||||
| 75 | 13 | 0.023 | 76 | 11 | 0.021 | |
| E. Asian BRCA variants | ||||||
| 276 | 121 | 0.217 | 266 | 111 | 0.209 | |
| F. Indian BRCA variants4 | ||||||
| 89 | 23 | 0.041 | 41 | 2 | 0.004 | |
1
Total refers to the numbers in each reference database.
2
Proportion = Shared variants / total variants (557 in BRCA1 or 531 in BRCA2) in Chinese population.
3
Variants can be overlapped among different databases and populations.