Table 6 Prevalence of mutations and sequence variants of BRCA1, NBS1 and CHEK2 genes and associated risk of breast cancer
Gene | Mutation | Number of cases in the study group (n = 2012) | Frequency in the study group | Number of cases in the control group (n = 4000) | Frequency in the control group | Odds ratio | 95%CI | p-value | Population attributable risk (%) |
|---|---|---|---|---|---|---|---|---|---|
BRCA1 | 5382insC | 43 | 0.02 | 14 | 0.0035 | 6.2 | 3.4-11.4 | <0.0001 | 1.8 |
C61G | 15 | 0.007 | 2 | 0.0005 | 15.0 | 3.4-66 | <0.0001 | 0.7 | |
4253delA | 1 | 0.0005 | 1 | 0.00025 | 2.0 | 0.1-32 | 0.6 | 0.2 | |
BRCA1 total | 59 | 0.029 | 17 | 0.00425 | 7.1 | 4.1-12.2 | <0.0001 | 2.7 | |
CHEK2 | 1100delC | 11 | 0.005 | 10 | 0.0025 | 2.2 | 0.9-5.2 | 0.10 | 0.3 |
IVS2+1G>A | 19 | 0.009 | 19 | 0.00475 | 2.0 | 1.1-3.8 | 0.05 | 0.4 | |
I157T | 132 | 0.006 | 193 | 0.04825 | 1.4 | 1.1-1.7 | 0.006 | 1.9 | |
CHEK2 total | 162 | 0.081 | 222 | 0.0555 | 1.5 | 1.2-1.8 | 0.0002 | 2.6 | |
NBS1 | 657del5 | 17 | 0.008 | 18 | 0.0045 | 1.9 | 1.0-3.7 | 0.09 | 0.4 |
NBS1 total | 238 | 0.118 | 257 | 0.06425 | - | - | - | 5.7 |