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

Table 3 Frequency of rare CNVs (<1% frequency) and overlapping genes in breast cancer cases and controls

Genomic feature	Total frequency		Mean frequency		Difference in means		Case/control ratio	P value
Genomic feature	Cases (n = 200)	Controls (n = 293)	Cases	Controls	Case - controls	95% CI	Case/control ratio	P value
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

ISSN: 1465-542X