Table 2.
HRD Signature and LOH Status Relevant to the Inactivation of the HR Pathway Related to the Mutation
| Status |
BRCA VUS Mutation N = 12/20 |
BRCA Pathogenic Mutation N = 8/20 |
Total | ||
|---|---|---|---|---|---|
| Somatic/unknowna N = 6/12 | Germline N = 6/12 | Somatic N = 6/8 | Germline N = 2/8 | ||
| HRD | |||||
| Cases with HRD score | 3/6 | 3/6 | 3/6 | 0/2 | 9/20 |
| High | 2/3 | 1/3 | 3/3 | — | 6/9 |
| Low | 1/3 | 2/3 | 0/3 | — | 3/9 |
| LOH | |||||
| Cases with LOH status | 4/6 | 6/6 | 4/6 | 2/2 | 16/20 |
| Biallelic inactivation | 3/4a | 3/6 | 1/4 | 2/2 | 9/16 |
| No biallelic inactivation | 1/4 | 3/6 | 3/4 | 0/2 | 7/16 |
HR, homologous recombination; HRD, homologous recombinant deficiency; LOH, loss of heterozygosis; VUS, variants of unknown significance.
a
Case 9: biallelic inactivation was considered for variants in the BRCA2 gene.