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Table 1 The correlation between a constitutional CHEK2 mutation and a risk of BC in analyzed women

From: A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland

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

     
  1. *Two mutations (I157T, IVS + 1G > A) in one woman with BC.
  2. aControls consisting of healthy women from North-Central region of Poland.
  3. bControls of the general Polish population, published by Cybulski et al. [6].
  4. cStatistically important.
  5. dTrend.
  6. OR odds ratio.
  7. CI confidence interval.