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Table 5 Comparison of CHEK2 mutation frequency in patients with colorectal cancer and controls

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

Mutation

Group

Number of carriers/number of tested

OR

95% CI

p

  

(frequency, %)

   
 

controls

58/5496 (1.1)

1.0

  

Protein truncating mutation*

     
 

unselected cases

11/1058 (1.0)

1.0

0.5–1.8

0.9

 

familial cases

2/110 (1.8)

1.7

0.4–7.2

0.44

I157T

controls

264/5496 (4.8)

1.0

  
 

unselected cases

77/1085 (6.6)

1.5

1.2–2.0

0.002

 

familial cases

11/110 (10)

2.2

1.2–4.1

0.01

  1. CI – confidence interval; OR – odds ratio; p – p-value
  2. *one of the three truncating mutations (del5395, 1100delC, IVS2+1G>A)
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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287