Table 1.
The correlation between a constitutional CHEK2 mutation and a risk of BC in analyzed women
| CHEK2 mutations and groups of tested women | Carriers/total n = 420 |
Controls
a
n = 435 |
Controls
b
n = 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 | |||||
*Two mutations (I157T, IVS + 1G > A) in one woman with BC.
aControls consisting of healthy women from North-Central region of Poland.
bControls of the general Polish population, published by Cybulski et al. [6].
cStatistically important.
dTrend.
OR odds ratio.
CI confidence interval.