Skip to main content
. 2022 Mar 10;14(6):1434. doi: 10.3390/cancers14061434

Table 5.

Comparison of tumor and germline genotyping results, for germline PV/LPV in HBOC genes, of matched tumor–blood samples from the cohort of 132 advanced non-mucinous EOC patients, who had successfully genotyped tumors and blood samples.

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.