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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.