Table 1. Proportion of rare CNVs in breast cancer cases and controls.
| All observed rare CNVs | Observed rare CNVs, not shareda | ||||||
| Subjects | n | All | Involving genesb | Disrupting genesc | All | Involving genesb | Disrupting genesc |
| Familial BC cases | 103 | 0.34 (35/103) | 0.29 (30/103) | 0.24 (25/103) | 0.25 (26/103) | 0.20 (21/103) | 0.17 (17/103) |
| Young BC cases | 75 | 0.32 (24/75) | 0.24 (18/75) | 0.23 (17/75) | 0.23 (17/75) | 0.15 (11/75) | 0.13 (10/75) |
| Controls | 128 | 0.23 (30/128) | 0.21 (27/128) | 0.16 (20/128) | 0.16 (21/128) | 0.14 (18/128) | 0.09 (12/128) |
BC = breast cancer.
a
Observed only in cancer cases, or only in controls.
b
The genomic loci has annotated genes.
c
Gene disruptions include rare CNVs having breakpoints within the genes or promoter regions, and rare CNVs which delete the involved genes entirely.