Table 2 Putative copy number variants assessed by TaqMan assays.
From: Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Gene symbol | CNV type | Variant carrier | Assay ID | Overlap CNV map1 | Proportion validated |
|---|---|---|---|---|---|
SULT1A1 | Deletion | BRCA1 | 1 | Yes | 100% (8/8) |
TERT | Deletion | BRCA2 | 1 | No | 0% (0/1) |
2 | No | 0% (0/1) | |||
3 | No | 33% (1/3) | |||
LSP1 | Duplication | BRCA2 | 1 | No | 50% (1/2) |
