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Table 1 Arg309Cys genotype distribution in German breast cancer cases and controls

From: TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study

 

TOPBP1 Genotype

OR (95% CI) (any Cys vs. Arg/Arg)

p

 

Arg/Arg

Arg/Cys

Cys/Cys

  

Population controls (n = 1014)

879 (.87)

130 (.13)

5 (.005)

  

Breast cancer (n = 1064)

936 (.88)

123 (.12)

5 (.005)

0.89 (0.69-1.15)

0.39

- familial

150 (.88)

19 (.11)

1 (.01)

0.87 (0.53-1.43)

0.56

- bilateral

118 (.93)

9 (.07)

0

0.49 (0.24- 0.99)

0.047

- age < 50 ys

263 (.89)

31 (.10)

2 (.01)

0.82 (0.55-1.22)

0.37

- ductal

606 (.90)

69 (.10)

2 (.003)

0.76 (0.56-1.04)

0.09

- node positive

270 (.88)

36 (.12)

1 (.01)

0.89 (0.61-1.32)

0.63

- ER negative

72 (.87)

10 (.12)

1 (.01)

0.99 (0.51-1.92)

1

  1. Relative distribution of TOPBP1 codon 309 genotypes in cases and controls shown as number of carriers and, in brackets, as relative fraction. Odds ratios are calculated for carriers of the rare Cys309 allele (with homozygous and heterozygotes combined) versus common homozygotes. P values were calculated using Fisher's exact test.