CHEK2 mutations and groups of tested women | Carriers/total n = 420 | Controlsan = 435 | Controlsbn = 5.496 | |||||
---|---|---|---|---|---|---|---|---|
OR | 95% CI | p-Value | OR | 95% CI | p-value | |||
IVS2 + 1G > A | ||||||||
All women | 5/420 | (1.2%) | 2.6 | 0.50-13.52 | 0.279 | 3.0 | 1.13-7.96 | 0.039c |
Women from families with BC aggregation | 1/121 | (0.8%) | 1.8 | 0.16-20.07 | 0.522 | 2.1 | 0.28-15.51 | 0.395 |
Controlsa | 2/435 | (0.5%) | 1.0 | |||||
Controlsb | 22/5.496 | (0.4%) | 1.0 | |||||
1100delC | ||||||||
All women | 2/420 | (0.5%) | 2.1 | 0.19-22.99 | 0.618 | 2.2 | 0.49-9.80 | 0.262 |
Women from families with BC aggregation | 2/121 | (1.7%) | 7.3 | 0.66-81.14 | 0.121 | 7.7 | 1.70-34.70 | 0.035c |
Controlsa | 1/435 | (0.2%) | 1.0 | |||||
Controlsb | 12/5.496 | (0.2%) | 1.0 | |||||
del5395 | ||||||||
All women | 2/420 | (0.5%) | 2.1 | 0.19-22.99 | 0.618 | 1.1 | 0.26-4.63 | 0.707 |
Women from families with BC aggregation | 1/121 | (0.8%) | 3.6 | 0.22-58.25 | 0.388 | 1.9 | 0.25-14.16 | 0.420 |
Controlsa | 1/435 | (0.2%) | 1.0 | |||||
Controlsb | 24/5.496 | (0.4%) | 1.0 | |||||
Any protein truncating mutation | ||||||||
All women | 9/420 | (2.1%) | 2.4 | 0.72-7.72 | 0.169 | 2.1 | 1.01-4.17 | 0.053d |
Women from families with BC aggregation | 4/121 | (3.3%) | 3.7 | 0.91-14.95 | 0.072d | 3.2 | 1.14-8.98 | 0.044c |
Women with no family history of BC | 5/299 | (1.7%) | 1.8 | 0.49-6.88 | 0.498 | 1.6 | 0.63-4.01 | 0.140 |
Controlsa | 4/435 | (0.9%) | 1.0 | |||||
Controlsb | 58/5.496 | (1.1%) | 1.0 | |||||
I157T | ||||||||
All women | 25/420 | (6.0%) | 1.5 | 0.79-2.73 | 0.273 | 1.3 | 0.82-1.91 | 0.290 |
Women from families with BC aggregation | 8/121 | (6.6%) | 1.6 | 0.70-3.87 | 0.327 | 1.4 | 0.68-2.90 | 0.286 |
Controlsa | 18/435 | (4.1%) | 1.0 | |||||
Controlsb | 264/5.496 | (4.8%) | 1.0 | |||||
Total CHEK2 mutation | ||||||||
All women | 33*/420 | (7.9%) | 1.6 | 0.91-2.80 | 0.124 | 1.4 | 0.94-1.99 | 0.109 |
Women from families with BC aggregation | 12/121 | (9.9%) | 2.1 | 0.99-4.31 | 0.055d | 1.8 | 0.96-3.24 | 0.076d |
Controlsa | 22/435 | (5.1%) | 1.0 | |||||
Controlsb | 322/5.496 | (5.8%) | 1.0 |