Table 3.
Pathogenic/likely pathogenic variants (PV/LPV) in nonBRCA 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 |
13 | 11 (6.4%) | 4 *** | 3 (1.7%) | 6 **** | 5 (2.9%) | 3 ***** | 3 (1.7%) |
| 1. patients with unsuccessful tumor genotyping ** 6 |
0 | 0 | 0 | 0 | NA | NA | NA | NA |
| 2. patient with successful tumor and germline genotyping 132 |
10 | 8 (6.0%) | 4 *** | 3 (2.2%) | 6 **** | 5 (3.8%) | 0 | 0 |
| 3. non-responders 32 |
3 | 3 (9.3%) | NA | NA | NA | NA | 3 ***** | 3 (9.3%) |
%—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); ***—germline PV/LPV in RAD51C, ATM, BRIP1, and CHEK2; ****—somatic PV/LPV in NF1 (5 variants), and in BARD1 (1 variant), one somatic PV/LPV in the NF1 gene was found in patient harboring at the same time germline PV/LPV in the BRCA1 gene and two somatic PV/LPV in NF1 were found in one patient (Tables S1 and S2); *****—one in RAD51C, one in BRIP1 and one in PTEN found in non-responders to genetic counseling/testing (Scheme 1); NA—not applicable.