20.500.12556/DiRROS-15446 Real-world data on detection of germline and somatic pathogenic/likely pathogenic variants in BRCA1/2 and other susceptibility genes in ovarian cancer patients using next generation sequencing Detection of germline and somatic pathogenic/likely pathogenic variants (PV/LPV) in BRCA genes is at the moment a prerequisite for use of PARP inhibitors in different treatment settings of different tumors. The aim of our study was to determine the most appropriate testing workflow in epithelial ovarian cancer (EOC) patients using germline and tumor genotyping of BRCA and other hereditary breast and/or ovarian cancer (HBOC) susceptibility genes. Consecutive patients with advanced non-mucinous EOC, who responded to platinum-based chemotherapy, were included in the study. DNA extracted from blood and FFPE tumor tissue were genotyped using NGS panels TruSightCancer/Hereditary and TruSight Tumor 170. Among 170 EOC patients, 21.8% had BRCA germline or somatic PV/LPV, and additionally 6.4% had PV/LPV in other HBOC genes. Sensitivity of tumor genotyping for detection of germline PV/LPV was 96.2% for BRCA genes and 93.3% for HBOC genes. With germline genotyping-only strategy, 58.8% of HBOC PV/LPV and 68.4% of BRCA PV/LPV were detected. By tumor genotyping-only strategy, 96.1% of HBOC PV/LPV and 97.4% of BRCA PV/LPV were detected. Genotyping of tumor first, followed by germline genotyping seems to be a reasonable approach for detection of PV/LPV in breast and/or ovarian cancer susceptibility genes in non-mucinous EOC patients. BRCA ovarian cancer tumor genotyping HBOC BRCA rak jajčnikov genotip tumorja HBOC true false true Angleški jezik Slovenski jezik by Authors Neznano 2022-09-06 03:35:20 2022-09-06 10:49:27 2022-09-07 12:47:51 0000-00-00 00:00:00 2022 0 0 Nasl. z nasl. zaslona; Opis vira z dne 12. 3. 2022; str. 1434-1-1434-17 no. 6 Vol. 14 Mar. 2022 0000-00-00 Zaloznikova Objavljeno apc 0000-00-00 0000-00-00 2022-03-01 616-07 2072-6694 10.3390/cancers14061434 100563715 https://www.mdpi.com/2072-6694/14/6/1434 1 69273c8c-2d73-11ed-bea5-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=20429 RAZ_Stegel_Vida_2022.pdf RAZ_Stegel_Vida_2022.pdf 1 DF9297614111EC2463CB1324BFEB404E b83f74d63cd41f7e2db1abe2df64fe44e2f30073ab2c5dcb9eee2e3cf98812bc 5e3f6761-2d9e-11ed-bea5-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=20436 Onkološki inštitut Ljubljana 0 0 0