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. Author manuscript; available in PMC: 2023 May 10.
Published in final edited form as: Genet Med. 2021 Nov 30;24(1):119–129. doi: 10.1016/j.gim.2021.08.016

Table 3.

Theoretical cumulative risks for selected groups of variants based on HR estimates and United Kingdom incidence rates (1960–1969)

Breast Cancer
Ovarian Cancer
Variant Group Risk at Age 50 (95% CI) Risk at Age 70 (95% CI) Risk at Age 70 (95% CI)

GC-HBOC BRCA1 PTC 0.33 (0.20–0.51) 0.70 (0.51–0.89) 0.28 (0.09–0.61)
All RING Domain 0.21 (0.14–0.31) 0.46 (0.33–0.61) 0.36 (0.20–0.58)
All BRCT Domain 0.30 (0.18–0.44) 0.39 (0.27–0.54) 0.16 (0.08–0.28)
All BRCA1 missense 0.24 (0.17–0.32) 0.40 (0.32–0.49) 0.21 (0.12–0.33)
GC-HBOC BRCA2 PTC 0.22 (0.12–0.37) 0.51 (0.34–0.69) 0.15 (0.04–0.39)
All DBD 0.18 (0.09–0.31) 0.36 (0.24–0.51) 0.065 (0.02–0.15)

BRCT, BRCA1-C-Terminal; CI, confidence interval; DBD, DNA binding domain; GC-HBOC, German Consortium for Hereditary Breast and Ovarian Cancer; HR, hazard ratio; PTC, protein truncating.