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Table 3 Frequency of rare CNVs (<1% frequency) 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 frequency Mean frequency Difference in means Case/control ratio P value
Cases (n = 200) Controls (n = 293) Cases Controls Case - controls 95% CI
Rare CNVs (<1%) overlapping genes
 All 513 491 2.6 1.7 0.9 0.3, 1.5 1.5 0.002
 Deletions 327 243 1.6 0.8 0.8 0.4, 1.3 2.0 0.0005
 Gains 186 248 0.9 0.8 0.1 -0.2, 0.4 1.1 0.6
Genes overlapping rare CNVs (<1%)
 All 778 749 3.9 2.56 1.3 0.0, 2.6 1.5 0.05
 Deletions 403 337 2.0 1.2 0.8 0.3, 1.5 1.8 0.005
 Gains 375 412 1.9 1.4 0.5 -0.6, 1.6 1.3 0.4
  1. CNV copy number variation