Table 1.
NGS custom panel.
| Gene | Chromosome | Transcript | Promoter coordinates (hg19) | ||
|---|---|---|---|---|---|
| ABRAXAS1 | 4q21.23 | NM_139076.3 | 84405004 | – | 84407579 |
| ATM | 11q22.3 | NM_000051.4 | 108090352 | – | 108102824 |
| BAP1 | 3p21.1 | NM_004656.4 | 52443528 | – | 52445254 |
| BARD1 | 2q35 | NM_000465.4 | 215670586 | – | 215676228 |
| BLM | 15q26.1 | NM_000057.4 | 91259223 | – | 91261915 |
| BRCA1 | 17q21.31 | NM_007294.4 | 41275950 | – | 41279128 |
| BRCA2 | 13q13.1 | NM_000059.4 | 32888279 | – | 32891522 |
| BRIP1 | 17q23.2 | NM_032043.3 | 59938392 | – | 59942231 |
| CDH1 | 16q22.1 | NM_004360.5 | 68770451 | – | 68781341 |
| CHEK2 | 22q12.1 | NM_007194.4 | 29136832 | – | 29139889 |
| MLH1 | 3p22.2 | NM_000249.4 | 37029343 | – | 37036702 |
| MRE11 | 11q21 | NM_005591.4 | 94225645 | – | 94228482 |
| MSH2 | 2p21-p16.3 | NM_000251.3 | 47628819 | – | 47632070 |
| MSH6 | 2p16.3 | NM_000179.3 | 48008831 | – | 48012262 |
| NBN | 8q21.3 | NM_002485.5 | 90992947 | – | 90997773 |
| NF1 | 17q11.2 | NM_001042492.3 | 29420791 | – | 29423873 |
| NTHL1 | 16p13.3 | NM_002528.7 | 2096199 | – | 2099088 |
| PALB2 | 16p12.2 | NM_024675.4 | 23650914 | – | 23654441 |
| PMS2 | 7p22.1 | NM_000535.7 | 6046956 | – | 6053558 |
| PTEN | 10q23.31 | NM_000314.8 | 89619851 | – | 89629136 |
| RAD50 | 5q31.1 | NM_005732.4 | 131891483 | – | 131895115 |
| RAD51C | 17q22 | NM_058216.3 | 56768997 | – | 56771624 |
| RAD51D | 17q12 | NM_002878.4 | 33445311 | – | 33447640 |
| RECQL4 | 8q24.3 | NM_004260.4 | 145741765 | – | 145744684 |
| STK11 | 19p13.3 | NM_000455.5 | 1202623 | – | 1210888 |
| TP53 | 17p13.1 | NM_000546.6 | 7587180 | – | 7593026 |
| WRN | 8p12 | NM_000553.6 | 30890166 | – | 30893433 |
| XRCC2 | 7q36.1 | NM_005431.2 | 152371781 | – | 152374441 |
List of the 28 cancer predisposition genes included in the NGS custom panel with the chromosome position, the name of the transcript and the genomic coordinates of the promoter regions analyzed.