Table 2.
The frequencies of mutations detected in study and control populations
| Mutation | This study | Freqa | Controlsb | Freqc | p-value | OR | 95% CI | Ref |
|---|---|---|---|---|---|---|---|---|
| CHEK2 c.1100delC | 4 of 68 | 0.059 | 26 of 1885 | 0.014 | 0.019 | 4.47 | 1.51–13.18 | 8 |
| CHEK2 I157T | 4 of 68 | 0.059 | 100 of 1885 | 0.053 | 0.781 | 1.12 | 0.40–3.13 | 12 |
| PALB2 c.1592delT | 0 of 68 | 0 | 2 of 1079 | 0.002 | 1 | n.a. | n.a. | 22 |
| FANCM p.Q1701X | 0 of 68 | 0 | 38 of 2080 | 0.018 | 0.632 | n.a. | n.a. | 25 |
| RAD51C c.93delG | 0 of 68 | 0 | 2 of 2086 | 0.001 | 1 | n.a. | n.a. | 18 |
| RAD51C c.837+1G>A | 0 of 68 | 0 | 0 of 2086 | 0 | 1 | n.a. | n.a. | 18 |
| RAD51D c.576+1G>A | 0 of 68 | 0 | 1 of 2102 | 0 | 1 | n.a. | n.a. | 24 |
amutation frequency in this study
bsee cited reference for control populations
cmutation frequency in controls