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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)