Table 2 Numbers of pathogenic BRCA1 and BRCA2 mutations detected in an unselected population of 100 000 UK women using WGS
BRCA1 main model | Has gene variant? | BRCA2 main model | Has gene variant? | ||||||
Variant detected by WGS? | Yes | No | Total | Variant detected by WGS? | Yes | No | Total | ||
Yes | 93 | 0 | 93 | Yes | 151 | 0 | 151 | ||
No | 27 | 99 880 | 99 907 | No | 49 | 99 800 | 99 849 | ||
Total | 120 | 99 880 | 100 000 | Total | 200 | 99 800 | 100 000 | ||
BRCA1 sensitivity analysis | Mean (SD) | Median (IQR) | Min | Max | BRCA2 sensitivity analysis | Mean (SD) | Median (IQR) | Min | Max |
True positives | 94 (15.8) | 94 (83–105) | 26 | 175 | True positives | 153 (23.0) | 153 (137–168) | 49 | 245 |
False positives | 2 (1.9) | 1 (0–3) | 0 | 26 | False positives | 3 (3.1) | 2 (1–4) | 0 | 37 |
False negatives | 26 (4.7) | 26 (23–29) | 7 | 48 | False negatives | 48 (7.8) | 47 (42–53) | 16 | 88 |
True negatives | 99 878 (20.4) | 99 878 (99 864–99 891) | 99 777 | 99 967 | True negatives | 99 797 (30.5) | 99 796 (99 776–99 817) | 99 672 | 99 934 |