Table 1.
Overall BC risk estimates for truncating mutations in each gene. Variant category tallies (online supplementary table S4) and carrier counts (online supplementary table S5) are available in the supplementary materials
Cases | Controls | OR (95% CI) | P-Value | |||||
Carriers | Non-Carriers | Carriers Frequency | Carriers | Non-Carriers | Carrier Frequency | |||
ATM | 85 | 13,002 | 0.00649 | 11 | 5,477 | 0.00200 | 3.26 (1.82–6.46) | 2.1×10-5 |
CHEK2 | 213 | 12,874 | 0.01628 | 29 | 5,459 | 0.00528 | 3.11 (2.15–4.69) | 5.6×10-11 |
PALB2 | 89 | 12,998 | 0.00685 | 8 | 5,480 | 0.00146 | 4.69 (2.27–9.68) | 6.9×10-6 |
XRCC2 | 9 | 13,078 | 0.00069 | 4 | 5,484 | 0.00073 | 0.94 (0.26–4.19) | 0.92 |