Table 4 Comparison of CHEK2 mutation frequency in women with breast cancer and in controls
Mutation | Group | Number of carriers/number of tested (frequency, %) | OR | 95% CI | p |
|---|---|---|---|---|---|
del5395 | controls | 24/5496 (0.4) | 1.0 | Â | Â |
|  | 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 | Â | Â |
|  | 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 | Â | Â |
|  | 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 | Â | Â |
|  | 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 | Â | Â |
|  | 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 | Â | Â |
|  | 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 |