Table 2 Genotype frequencies of XRCC1-rs25489 by mutation and disease status and hazard ratio estimates from stages I and II and combined

From: Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

 

Genotype

Unaffected (%)

Affected (%)

HR

95% CI

P -value

Stage I

 BRCA1 (n=701)

GG

300 (89.8)

317 (86.4)

1.00

  
 

AG

33 (9.88)

49 (13.4)

1.29

0.85–1.97

0.2

 

AA

1 (0.30)

1 (0.27)

0.87

0.24–3.20

0.8

 BRCA2 (n=576)

GG

226 (88.3)

283 (88.4)

1.00

  
 

AG

30 (11.7)

35 (10.9)

1.20

0.69–2.08

0.5

 

AA

0

2 (0.63)

22.3

14.6–34.0

<0.001

Stage II

 BRCA1 (n=4480)

GG

1659 (89.5)

1757 (91.2)

1.00

  
 

AG

192 (10.4)

166 (8.62)

0.83

0.67–1.02

0.07

 

AA

2 (0.11)

3 (0.16)

1.26

0.30–5.32

0.8

 BRCA2 (n=3016)

GG

1045 (89.9)

1143 (89.2)

1.00

  
 

AG

112 (9.64)

131 (10.3)

0.98

0.77–1.25

0.9

 

AA

5 (0.43)

4 (0.31)

0.73

0.21–2.52

0.6

Combined

 BRCA1 (n=5181)

GG

1959 (89.6)

2074 (90.5)

1.00

  
 

AG

225 (10.3)

215 (9.38)

0.89

0.74–1.07

0.2

 

AA

3 (0.14)

4 (0.17)

0.72

0.20–2.60

0.6

 BRCA2 (n=3592)

GG

1271 (89.6)

1426 (89.2)

1.00

  
 

AG

142 (10)

166 (10.4)

1.02

0.81–1.28

0.9

 

AA

5 (0.35)

6 (0.38)

1.08

0.37–3.14

0.9

  1. Abbreviations: CI=confidence interval; HR=hazard ratio. Statistically significant results are highlighted in bold.