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Table 2 Numbers of pathogenic BRCA1 and BRCA2 mutations detected in an unselected population of 100 000 UK women using WGS

From: Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study

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