Table 4. Overview of HR pathway mutations detected.
| Gene | Total number (%) samples | Number of samples with known deleterious mutation | Number of samples with mutation of unknown significance |
|---|---|---|---|
| ATM | 13 (11%) | 6 | 7 |
| ATR | 8 (7%) | 1 | 7 |
| ATRX | 5 (4%) | 2 | 3 |
| BARD1 | 6 (5%) | 6 | |
| BLM | 12 (10%) | 12 | |
| BRCA1 | 3 (3%) | 3 | |
| BRCA2 | 13 (11%) | 1 | 12 |
| BRIP1 | 7 (6%) | 1 | 6 |
| CHEK1 | 3 (3%) | 3 | |
| CHEK2 | 4 (3%) | 1 | 3 |
| FANCA | 9 (8%) | 9 | |
| FANCC | 3 (3%) | 3 | |
| FANCD2 | 11 (9%) | 11 | |
| FANCE | 6 (5%) | 6 | |
| FANCF | 3 (3%) | 3 | |
| FANCG | 1 (1%) | 1 | |
| FANCI | 6 (5%) | 6 | |
| FANCL | 4 (3%) | 4 | |
| FANCM | 9 (8%) | 9 | |
| MRE11A | 2 (2%) | 2 | |
| NBN | 9 (8%) | 9 | |
| PALB2 | 6 (5%) | 6 | |
| RAD50 | 3 (3%) | 3 | |
| RAD51 | 1 (1%) | 1 | |
| RAD51C | 2 (2%) | 2 | |
| RAD51D | 0 | 0 | |
| RAD52 | 4 (3%) | 4 | |
| RAD54L | 2 (2%) | 2 |
Abbreviations: HR, homologous recombination.