Table 1.
Pathogenic/likely pathogenic variants (PV/LPV) in HBOC genes among all 170 consecutive advanced non-mucinous EOC patients.
| Group/Subgroup No. of Patients |
PV/LPV (No.) | Patients with PV/LPV (No., %) |
Germline PV/LPV (No.) |
Patients with Germline PV/LPV (No., %) |
Somatic PV/LPV (No.) |
Patients with Somatic PV/LPV (No., %) |
PV/LPV with Unknown Origin * (No.) |
Patients with PV/LPV with Unknown Origin * (No., %) |
|---|---|---|---|---|---|---|---|---|
| Entire study group 170 |
51 | 46 (27.1%) | 30 *** | 29 (17.1%) | 17 | 15 (8.8%) | 4 | 4 (2.3%) |
| 1. patients with unsuccessful tumor genotyping ** 6 |
0 | 0 | 0 | 0 | NA | NA | NA | NA |
| 2. patient with successful tumor and germline genotyping 132 |
47 | 42 (31.8%) | 30 *** | 29 (21.9%) | 17 | 15 (11.3%) | 0 | 0 |
| 3. non-responders 32 |
4 | 4 | NA | NA | NA | NA | 4 | 4 (12.5%) |
%—percent of patients within the group/sub-group; PV/LPV—pathogenic/likely pathogenic variants; *—PV/LPV with unknown origin were found in patients that did not refer to genetic counseling and confirmatory germline testing; **—among 6 patients with unsuccessful tumor genotyping, no PV/LPV was found by germline genotyping (Scheme 1); ***—only 28 germline PV/LPV were detected by tumor genotyping; NA—not applicable.