Table 2 Overview of results for 4820 variants, of which 62 variants had been classified as pathogenic or likely pathogenic in APC, ATM, BRCA1, BRCA2, CDKN2A, MEN1 and PTEN
From: Development and validation of next generation sequencing based 35-gene hereditary cancer panel
| Gene | Total Variants | True Positives | False Positives | False Negatives |
|---|---|---|---|---|
| APC | 622 | 622 | 0 | 0 |
| ATM | 176 | 176 | 0 | 0 |
| BAP1 | 17 | 17 | 0 | 0 |
| BARD1 | 298 | 298 | 0 | 0 |
| BMPR1A | 82 | 82 | 0 | 0 |
| BRCA1 | 399 | 399 | 0 | 0 |
| BRCA2 | 577 | 577 | 0 | 0 |
| BRIP1 | 331 | 331 | 0 | 0 |
| CDH1 | 116 | 116 | 0 | 0 |
| CDK4 | 0 | 0 | 0 | 0 |
| CDKN2A | 29 | 29 | 0 | 0 |
| CHEK2 | 19 | 19 | 0 | 0 |
| EPCAM | 111 | 111 | 0 | 0 |
| GREM1 | 31 | 31 | 0 | 0 |
| MEN1 | 252 | 252 | 0 | 0 |
| MITF | 4 | 4 | 0 | 0 |
| MLH1 | 34 | 34 | 0 | 0 |
| MRE11 | 140 | 140 | 0 | 0 |
| MSH2 | 104 | 104 | 0 | 0 |
| MSH6 | 104 | 104 | 0 | 0 |
| MUTYH | 76 | 76 | 0 | 0 |
| NBN | 260 | 260 | 0 | 0 |
| PALB2 | 41 | 41 | 0 | 0 |
| PMS1 | 10 | 10 | 0 | 0 |
| PMS2 | 362 | 362 | 0 | 6a |
| POLD1 | 124 | 124 | 0 | 0 |
| POLE | 322 | 322 | 0 | 0 |
| PTEN | 7 | 7 | 0 | 0 |
| RAD50 | 10 | 10 | 0 | 0 |
| RAD51C | 10 | 10 | 0 | 0 |
| RAD51D | 55 | 55 | 0 | 0 |
| SMAD4 | 0 | 0 | 0 | 0 |
| STK11 | 8 | 8 | 0 | 0 |
| TP53 | 85 | 85 | 0 | 0 |
| XRCC2 | 4 | 4 | 0 | 0 |
| TOTAL | 4820 | 4820 | 0 | 6a |