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Table 1 Frequency of CNVs and overlapping genes in breast cancer cases and controls

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

Genomic feature Total count Mean frequency Difference in means Case/control ratio P value
Cases (n = 200) Controls (n = 293) Cases Controls Case - controls 95% CI
CNVs
 All 5109 6133 25.6 20.9 4.6 3.2, 6.0 1.2 2e-10
 Deletions 3622 3644 18.1 12.4 5.7 4.4, 7.0 1.5 2e-16
 Gains 1487 2489 7.4 8.5 -1.1 -1.9, -0.3 0.9 0.01
CNVs overlapping genes
 All 1734 2069 8.7 7.1 1.6 0.9, 2.4 1.2 3e-05
 Deletions 1048 956 5.2 3.3 2.0 1.4, 2.6 1.6 4e-10
 Gains 686 1113 3.4 3.8 -0.4 -0.8, 0.1 0.9 0.1
Genes overlapping CNVs
 All 2816 3501 14.1 12.0 2.1 0.5, 3.8 1.2 0.01
 Deletions 1450 1368 7.3 4.7 2.6 1.7, 3.5 1.6 2e-08
 Gains 1366 2133 6.8 7.3 -0.5 -1.8, 0.9 0.9 0.5
  1. CNV copy number variation