Mutation frequencies of BRCA1 and BRCA2 in breast cancer cases compared with population*
| Class | Cases (n=2575) | Controls (n=2809) | ExAC EA (n=4327) | OR (95% CI)† | OR (95% CI)‡ |
| Non-carriers | 2412 (93.7%) | 2755 (98.1%) | 4259 (98.4%) | 1.00 (reference) | 1.00 (reference) |
| BRCA1 | |||||
| Deleterious | 55 (2.1) | 5 (0.2) | 7 (0.2) | 12.6 (5.0 to 31.4) | 13.9 (6.3 to 30.5) |
| VUS | 12 (0.5) | 4 (0.1) | 6 (0.1) | 3.4 (1.1 to 10.6) | 3.5 (1.3 to 9.4) |
| BRCA2 | |||||
| Deleterious | 66 (2.6) | 6 (0.2) | 9 (0.2) | 12.6 (5.4 to 29.0) | 12.9 (6.4 to 26.0) |
| VUS | 30 (1.2) | 39 (1.4) | 46 (1.1) | 0.9 (0.5 to 1.4) | 1.2 (0.7 to 1.9) |
*Unless otherwise specified, data are presented in no. (%)
†Cases versus controls.
‡Cases versus ExAC EA.
EA: East Asian; ExAC: Exome Aggregation Consortium; VUS, variants of unknown significance.