Table 5.
Matched Tumor Samples | Matched Blood Samples | ||
---|---|---|---|
No. of patients–carriers of germline PV/LPV in HBOC genes | No. of patients with germline wild type HBOC genes | No. of all patients with genotyped matched blood samples | |
No. patients with PV/LPV in HBOC genes detected in matched tumor samples | 27 | 13 ** | 40 |
No. patients with wild type HBOC genes in matched tumor sample | 2 * | 90 | 92 |
No. of all patients with genotyped matched tumor samples | 29 | 103 | 132 |
* Two non-mucinous EOC patients with germline pathogenic/likely pathogenic variants (PV/LPV) were not detected by tumor genotyping—one patient with BRCA1 large deletion and another patient with SNV PV/LPV in ATM (indeed this patient was carrier of two germline mutations, another one in RAD51C, which was detected also by tumor genotyping); ** in one patient two somatic PV/LPV in NF1 were detected. Somatic PV/LPV were detected also in three patients with germline PV/LPV in HBOC genes.