Table 5.
Summary of loss of heterozygosity and additional somatic truncating mutations detected in genes.
| Gene | Number of germline mutant alleles | Number of tumor analyzed | LOH | AST | ND | Ratio of LOH or AST |
|---|---|---|---|---|---|---|
| PALB2 | 7 | 5 | 1 | 4 | 0 | 5/5 (100%) |
| ATM | 6 | 3 | 2 | 0 | 1 | 2/3 (67%) |
| RAD51D | 4 | 3 | 1 | 0 | 2 | 1/3 (33%) |
| BARD1 | 5 | 2 | 1 | 0 | 1 | 1/2 (50%) |
| BRIP1 | 3 | 2 | 1 | 0 | 1 | 1/2 (50%) |
| RAD51C | 3 | 2 | 1 | 0 | 1 | 1/2 (50%) |
| NF1 | 1 | 1 | 1 | 0 | 0 | 1/1 (100%) |
| BLM | 4 | 1 | 0 | 0 | 1 | 0/1 (0%) |
| FANCM | 2 | 1 | 0 | 0 | 1 | 0/1 (0%) |
| RAD50 | 1 | 1 | 0 | 0 | 1 | 0/1 (0%) |
| CHEK2 | 1 | 1 | 0 | 0 | 1 | 0/1 (0%) |
| RECQL | 1 | 0 | 0 | 0 | 0 | 0/0 (NA) |
| Total | 38 | 22 | 8 | 4 | 10 | 12/22 (54.5%) |
LOH loss of heterozygosity by copy number (CN) loss, AST additional somatic truncation, ND not detected, NA not available.