Table 6.
Loss of heterozygosity in PGAs*
| Gene | Wild-type, No. (%) | LOH, No. (%) | Copy neutral LOH, No. (%) | Homozygous deletion, No. (%) | Indeterminate, No. (%) | Total, No. |
|---|---|---|---|---|---|---|
| PMS2 | 1 (100.0) | — | — | — | — | 1 |
| APC | 8 (100.0) | — | — | — | — | 8 |
| ATM | 2 (25.0) | 3 (37.5) | 2 (25.0) | — | 1 (12.5) | 8 |
| BARD1 | 1 (100.0) | — | — | — | — | 1 |
| BLM | 2 (100.0) | — | — | — | — | 2 |
| BRCA1 | 3 (30.0) | 3 (30.0) | 3 (30.0) | 1 (10.0) | — | 10 |
| BRCA2 | 6 (30.0) | 9 (45.0) | 3 (15.0) | 1 (5.0) | 1 (5.0) | 20 |
| CDKN2A | 4 (66.7) | 1 (16.7) | — | — | 1 (16.7) | 6 |
| CHEK2 | 7 (58.3) | 2 (16.7) | 2 (16.7) | — | 1 (8.3) | 12 |
| FH | — | 1 (100.0) | — | — | — | 1 |
| MITF | 1 (100.0) | — | — | — | — | 1 |
| MUTYH | — | — | — | — | 2 (100.0) | 2 |
| NF1 | — | 1 (100.0) | — | — | — | 1 |
| PALB2 | 1 (100.0) | — | — | — | — | 1 |
| RAD50 | 1 (100.0) | — | — | — | — | 1 |
*
— denotes 0. LOH = loss of heterozygosity; PGA = pathogenic germline alteration.