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Table 4 Common copy number changes in RefSeq genes over-represented in early-onset breast cancer cases

From: Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry

Gene Type Cases (n = 200) Controls (n = 293) OR 95% CI P P adjust a qPCR verifiedb
DOCK5 Deletion 29 7 6.9 2.9, 19.0 5 × 10-7 3 × 10-3 0% (0/4)
DOCK5 Gain 3 29 0.1 0.0, 0.5 1 × 10-4 NS 0% (0/4)
OR4C11 Deletion 71 51 2.6 1.7, 4.1 7 × 10-6 2 × 10-2 83% (5/6)
OR4P4 Deletion 82 66 2.4 1.6, 3.6 2 × 10-5 3 × 10-2 100% (8/8)
UGT2B17 Deletion 57 45 2.2 1.4, 3.5 6 × 10-4 NS Not tested
OR4C6 Deletion 62 50 2.2 1.4, 3.4 4 × 10-4 NS Not tested
OR4S2 Deletion 65 54 2.1 1.4, 3.3 4 × 10-4 NS Not tested
  1. aMultiple testing with a false discovery rate of 5% using the method of Benjamini and Yekutieli. bPercentage of copy number variation (CNV) positive samples tested (number of positive samples/number of samples tested). RefSeq reference sequence, CI confidence interval, NS not significant, OR odds ratio, qPCR quantitative polymerase chain reaction