Table 2. Overview of the panel design of 154 estrogen and cancer associated genes with the variants identified in 35 subjects analyzed.
| Capture plan | Variants identified | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Total | dbSNP deposited* | non-dbSNP deposited | |||||||
| No of genes | nt (Kb) | No | Missense + non-sense | Silent | Intron-exon | Missense + non-sense + ins / del | Silent | Intron-exon | |
| ESTROGEN | 47 | 101.407 | 25 | 9 | 4 | 0 | 11 | 0 | 1 |
| ligand metabolism | 10 | 13.501 | 3 | 0 | 0 | 0 | 3 | 0 | 0 |
| target genes | 24 | 46.847 | 12 | 6 | 2 | 0 | 3 | 0 | 1 |
| responsive genes | 7 | 10.539 | 1 | 0 | 0 | 0 | 1 | 0 | 0 |
| co-regulators | 6 | 30.52 | 9 | 3 | 2 | 0 | 4 | 0 | 0 |
| ONCOGENES | 35 | 112.56 | 24 | 3 | 5 | 2 | 8 | 6 | 0 |
| TUMOUR SUPPRESS | 63 | 162.306 | 40 | 17 | 9 | 0 | 8 | 4 | 2 |
| OTHER | 9 | 19.395 | 9 | 0 | 3 | 0 | 5 | 0 | 1 |
| TOTAL | 154 | 395.668 | 98 | 29 | 21 | 2 | 32 | 10 | 4 |
*
variants deposited in the dbSNP database with a MAF <0.001.
The list of all variants is given in Supplemental Table S3.