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Table 4 Comparison of CHEK2 mutation frequency in women with breast cancer and in 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 (frequency, %) OR 95% CI p
del5395 controls 24/5496 (0.4) 1.0   
  unselected cases 19/1978 (1.8) 2.2 1.2–4.0 0.01
  early onset cases 28/3229 (0.9) 2.0 1.2–3.4 0.02
1100delC controls 12/5496 (0.2) 1.0   
  unselected cases 10/1978 (0.6) 2.3 1.0–5.4 0.08
  early onset cases 16/3228 (0.5) 2.3 1.1–4.8 0.04
IVS2+1G>A controls 22/5496 (0.4) 1.0   
  unselected cases 21/1978 (1.1) 2.7 1.5–4.9 0.002
  early onset cases 31/3228 (1.0) 2.4 1.4–4.2 0.002
Protein truncating mutation* controls 58/5496 (1.1) 1.0   
  unselected cases 49/1978 (2.5) 2.4 1.6–3.5 <0.0001
  early onset cases 74/3228 (2.3) 2.2 1.6–3.1 <0.0001
I157T controls 264/5496 (4.8) 1.0   
  unselected cases 134/1978 (6.8) 1.4 1.2–1.8 0.001
  early onset cases 207/3228 (6.4) 1.4 1.1–1.6 0.002
CHEK2** controls 321/5496 (5.8) 1.0   
  unselected cases 180/1978 (9.1) 1.6 1.3–2.0 <0.0001
  early onset cases 279/3228 (8.6) 1.5 1.3–1.8 <0.0001
  1. CI – confidence interval; OR – odds ratio; p – p-value
  2. *one of the three truncating mutations (del5395, 1100delC, IVS2+1G>A)
  3. **any CHEK2 mutation (del5395, 1100delC, IVS2+1G>A, I157T)