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Table 1 Genotype distributions of the BRIP1 variants -64G>A (rs2048718§) and Pro919Ser (rs4986764§) among unrelated German BRCA1/2 mutation-negative familial breast cancer patients and healthy, unrelated female control subjects

From: BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study

BRIP -64G>A CASES CONTROLS    
  n % n % OR* 95% CI P
All Σ 571   712     
GG 181 31.7 228 32.0 1   
GA 283 49.6 340 47.8 1.05 0.82–1.35 0.71
AA 107 18.7 144 20.2 0.94 0.68–1.29 0.68
GA+AA 390 68.3 484 68.0 1.02 0.80–1.29 0.90
< 50 years Σ 406   367     
GG 132 32.5 113 30.8 1   
GA 190 46.8 180 49.0 0.90 0.65–1.25 0.54
AA 84 20.7 74 20.2 0.97 0.65–1.45 0.89
GA+AA 274 67.5 254 69.2 0.92 0.68–1.25 0.61
50 years Σ 165   345     
GG 49 29.7 115 33.3 1   
GA 93 56.4 160 46.4 1.36 0.90–2.08 0.15
AA 23 13.9 70 20.3 0.77 0.43–1.37 0.38
GA+AA 116 70.3 230 66.7 1.18 0.79–1.77 0.41
BRIP Pro919Ser        
All Σ 571   712     
Pro/Pro 181 31.7 226 31.7 1   
Pro/Ser 295 51.7 365 51.3 1.01 0.79–1.29 0.94
Ser/Ser 95 16.6 121 17.0 0.98 0.70–1.37 0.91
Pro/Ser+Ser/Ser 390 68.3 486 68.3 1.00 0.79–1.27 0.97
< 50 years Σ 406   367     
Pro/Pro 121 29.8 118 32.2 1   
Pro/Ser 219 53.9 182 49.6 1.17 0.85–1.62 0.33
Ser/Ser 66 16.3 67 18.3 0.96 0.63–1.47 0.85
Pro/Ser+Ser/Ser 285 70.2 249 67.8 1.12 0.82–1.51 0.48
50 years Σ 165   345     
Pro/Pro 60 36.4 108 31.3 1   
Pro/Ser 76 46.1 183 53.0 0.75 0.49–1.13 0.17
Ser/Ser 29 17.6 54 15.7 0.97 0.56–1.68 0.90
Pro/Ser+Ser/Ser 105 63.6 237 68.7 0.80 0.54–1.18 0.26
  1. *As compared to GG and Pro/Pro homozygotes, respectively; § dbSNP rs#; Hardy-Weinberg equilibrium test was undertaken using Pearson's goodness-of-fit chi-square test with one degree of freedom. Adjustment for age did not change the ORs, assuming that the distribution of the BRIP1 genotypes is age-independent.
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