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Table 3 Comparison of the frequency of CHEK2 mutations in prostate cancer patients and in the control group

From: Selected aspects of inherited susceptibility to prostate cancer and tumours of different site of origin

Mutation

Group

Number of carriers/number of tested (frequency, %)

OR

95% CI

p

del5395

controls

24/5496 (0.4)

1.0

  
 

unselected cases

15/1864 (0.8)

1.9

0.97–3.5

0.009

 

familial cases

4/249 (1.6)

3.7

1.3–10.8

0.03

1100delC

controls

12/5496 (0.2)

1.0

  
 

unselected cases

14/1864 (0.8)

3.5

1.6–7.5

0.002

 

familial cases

3/249 (1.2)

5.6

1.6–19.9

0.02

IVS2+1G>A

controls

22/5496 (0.4)

1.0

  
 

unselected cases

15/1864 (0.8)

2.0

1.05–3.9

0.052

 

familial cases

5/249 (2.0)

5.1

1.9–13.6

0.002

Protein truncating mutation*

controls

58/5496 (1.1)

1.0

  
 

unselected cases

44/1864 (2.4)

2.3

1.5–3.4

<0.0001

 

familial cases

12/249 (4.8)

4.7

2.5–9.0

<0.0001

I157T

controls

264/5496 (4.8)

1.0

  
 

unselected cases

142/1864 (7.6)

1.6

1.3–2.0

<0.0001

 

familial cases

30/249 (12.0)

2.7

1.8–4.1

<0.0001

CHEK2**

controls

321/5496 (5.8)

1.0

  
 

unselected cases

184/1864 (9.9)

1.8

1.5–2.1

<0.0001

 

familial cases

42/249 (16.9)

3.3

2.3–4.6

<0.0001

  1. CI – confidence interval; OR – odds ratio; p – p-value
  2. *one of the three truncating mutations (del5395, IVS2+1G>A, 1100delC)
  3. **any CHEK2 mutation (del5395, IVS2+1G>A, 1100delC, I157T)