Skip to main content

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.