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Table 2 Detected haplotypes with frequency estimates for population controls and breast cancer cases

From: RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families

RAD51 haplotype

Haplotype count

Frequency controls

Frequency all cases

Haplotype count

Frequency controls

Frequency fam cases

GCGCACTTAGAGAC

1510

26.66%

28.11%

999

26.66%

28.80%

GCGCATTTGGAGAC

1510

27.22%

27.63%

996

27.22%

27.36%

GCGTACTTAGGGAC

956

18.07%

16.81%

656

18.07%

17.74%

GTGCACTTAGAGAC

913

16.25%

16.89%

579

16.25%

15.03%

CCGCGCCGAAAGGG

431

8.51%

7.29%

301

8.51%

7.69%

GCTCATTTGGAGAC

138

2.76%

2.32%

97

2.76%

2.45%

GTGCACTTAGATAC

37

0.45%

0.86%

21

0.45%

0.84%

GCGCACTTAGGGAC

2

0.04%

0.03%

2

0.04%

0.08%

CCGCGCTTAGAGAC

1

0.04%

0%

1

0.04%

0%

GCGCACTTGGAGAC

1

0.001%

0.02%

0

0%

0%

CCGCGCCGAAAGAC

1

0%

0.03%

0

0%

0%

 

All BC cases vs controls: p  = 0.45

Familial BC cases vs controls: p  = 0.66

XRCC3 haplotype

Haplotype count

Frequency controls

Frequency all cases

Haplotype count

Frequency controls

Frequency fam cases

CATGCGCGGG

1599

28.57%

29.58%

1071

28.56%

31.07%

TACGCGCTGG

1586

28.32%

29.25%

1046

28.32%

29.30%

CGTACGCGGG

1159

22.33%

20.05%

778

22.33%

19.17%

CATGCGCGGA

602

10.82%

10.98%

378

10.83%

9.26%

CGTGCGTGGG

227

4.13%

4.03%

151

4.14%

3.98%

TACGCGCTAG

200

3.28%

3.92%

139

3.28%

4.90%

CGTGCGCGGG

75

1.49%

1.25%

55

1.49%

1.52%

CGTACACGGG

29

0.49%

0.56%

18

0.49%

0.51%

CGTGTGCGGG

17

0.41%

0.23%

12

0.41%

0.17%

CGTGCGTGGA

4

0.12%

0.11%

2

0.11%

0.03%

TGCGCGCTGG

1

0.05%

0.005%

1

0.05%

0.003%

CATGCGCTGG

1

0%

0.02%

1

0%

0.04%

 

All BC cases vs controls: p  = 0.49

Familial BC cases vs controls: p  = 0.14

XRCC2 haplotype

Haplotype count

Frequency controls

Frequency all cases

Haplotype count

Frequency controls

Frequency fam cases

GGGCGCACCT

3633

66.79%

65.48%

2438

66.80%

66.73%

GGGCGCACCG

1253

22.53%

22.97%

814

22.53%

21.79%

GGACGCACCT

247

4.13%

4.78%

159

4.13%

4.81%

GGGCCCATGT

123

2.15%

2.31%

84

2.15%

2.62%

AGGTGGACCT

123

2.25%

2.21%

83

2.25%

2.28%

GAGCGCGCGT

119

2.11%

2.21%

73

2.11%

1.77%

GGGCGCACGT

1

0.02%

0%

1

0.02%

0%

GAGCGCACCT

1

0%

0.02%

0

0%

0%

 

All BC cases vs controls: p  = 0.55

Familial BC cases vs controls: p  = 0.80

  1. BC = breast cancer; Fam = familial.
  2. Separate analyses were performed for all breast cancer cases versus controls and familial breast cancer cases versus controls. The SNPs included in the analysis are described in Table 3.