Table 2.
Results of AmoyDx HRD Focus Panel (left), Myriad MyChioce CDx (central), and BRCA somatic and germline tests (right).
| AmoyDx HRD Focus Panel | Myriad MyChoice CDx | BRCA1/2 Testing | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Pt | HRD | GIS | BRCA | Significance | HRD | GIS | BRCA | Significance | Somatic $ | Germline |
| ID_01 | + | 99.2 | - | All benign | + | 72 | - | All benign | WT | |
| ID_02 | + | 100 | - | All benign | + | 51 | - | All benign | WT | |
| ID_03 | - | 45.4 | - | All benign | - | 28 | - | All benign | WT | |
| ID_04 | + | 98.3 | + | Pathogenic | + | 60 | + | Deleterious | * BRCA2 p.Tyr1739Ter (c.5217_5220del) 89% | yes |
| ID_05 | + | 98.3 | - | All benign | + | 66 | - | All benign | WT | |
| ID_06 | + | 97.3 | + | Pathogenic | + | 54 | + | Deleterious | * BRCA1 p.Tyr777Ter (c.2331T > G) 76% | yes |
| ID_07 | - | 36.1 | - | Likely-benign | - | 36 | - | All benign | WT | |
| ID_08 | + | 97.1 | - | All benign | + | 48 | - | All benign | WT | |
| ID_09 | + | 97.6 | + | Likely-pathogenic | + | 60 | + | Deleterious | * BRCA2 p.Ala1327ProfsTer8 (c.3979delG) 76% | no |
| ID_10 | + | 96.8 | + | Pathogenic | + | 57 | + | Deleterious | * BRCA2 p.Val1283LysfsTer2 (c.3847_3848delGT) 79% | yes |
| ID_11 | + | 100 | - | All benign | + | 67 | - | All benign | WT | |
| ID_12 | + | 59.1 | + | Likely-pathogenic | + | 36 | + | Deleterious | * BRCA2 p.Asn615ThrfsTer29 (c.1842delT) 24% | no |
| ID_13 | - | 14.1 | - | All benign | - | 22 | - | All benign | WT | |
| ID_14 | + | 98.9 | - | All benign | na | na | WT | |||
| ID_15 | + | 72 | - | All benign | na | na | WT | |||
| ID_16 | + | 84 | + | Uncertain | na | na | ^ BRCA2 p.Arg2991Cys (c.8971C > T) 31% | |||
HRD+ = HRD; HRD- = HRp; na = not available; BRCA1 (NM_007294.4), BRCA2 (NM_000059); $ evaluated using BRCA-Expanded Panel; * BRCA variants identified by AmoyDx HRD Focus Panel, Myriad MyChoice CDx, and BRCA-Expanded Panel; ^ BRCA variant identified by AmoyDx HRD Focus Panel and BRCA-Expanded Panel.