11. 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 sequencingVida Stegel, Ana Blatnik, Erik Škof, Vita Šetrajčič Dragoš, Mateja Krajc, Brigita Gregorčič, Petra Škerl, Ksenija Strojnik, Gašper Klančar, Marta Banjac, Janez Žgajnar, Maja Ravnik-Oblak, Srdjan Novaković, 2022, original scientific article Abstract: 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. Keywords: BRCA, ovarian cancer, tumor genotyping, HBOC Published in DiRROS: 06.09.2022; Views: 482; Downloads: 266 Full text (2,35 MB) This document has many files! More... |
12. Klinična pot genetske obravnave bolnic z epitelijskim nemucinoznim rakom jajčnikov/jajcevodov/primarnim peritonealnim seroznim karcinomomErik Škof, Ksenija Strojnik, Marta Banjac, Ana Blatnik, Vida Stegel, Natalija Klopčič, Simona Hotujec, Srdjan Novaković, Mateja Krajc, 2021, dictionary, encyclopaedia, lexicon, manual, atlas, map Keywords: rak jajčnikov, genetika, zdravljenje, klinične poti Published in DiRROS: 16.03.2022; Views: 656; Downloads: 329 Full text (363,49 KB) This document has many files! More... |
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14. Dokazovanje mutacij v BRCA1 genu z analizo talitvene krivulje PCR produktovSrdjan Novaković, Vida Stegel, Mateja Krajc, Janez Žgajnar, Nikola Bešić, Marko Hočevar, Cvetka Bilban-Jakopin, Katarina Lokar, 2006, published scientific conference contribution Published in DiRROS: 17.09.2019; Views: 2332; Downloads: 586 Full text (184,79 KB) |
15. Dedni rak širokega črevesaMateja Krajc, Janez Žgajnar, Nikola Bešić, Marko Hočevar, Cvetka Bilban-Jakopin, Katarina Lokar, Srdjan Novaković, Vida Stegel, 2006, published professional conference contribution Published in DiRROS: 17.09.2019; Views: 1996; Downloads: 529 Full text (279,72 KB) |
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17. Potek genetskega svetovanja in testiranja na Onkološkem inštitutu LjubljanaKatarina Lokar, Janez Žgajnar, Mateja Krajc, Nikola Bešić, Marko Hočevar, Cvetka Bilban-Jakopin, Srdjan Novaković, Vida Stegel, Miljeva Rener, Aleš Vakselj, 2006, published professional conference contribution Published in DiRROS: 17.09.2019; Views: 2053; Downloads: 556 Full text (101,65 KB) |
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19. Dedni rak dojk in jajčnikovJanez Žgajnar, Mateja Krajc, Nikola Bešić, Marko Hočevar, Cvetka Bilban-Jakopin, Katarina Lokar, Srdjan Novaković, Vida Stegel, Miljeva Rener, Aleš Vakselj, 2006, published professional conference contribution Published in DiRROS: 16.09.2019; Views: 1662; Downloads: 457 Full text (213,19 KB) |
20. Genetsko svetovanje in testiranje pri slovenskih družinah z rakom dojk in/ali jajčnikovMateja Krajc, Janez Žgajnar, Nikola Bešić, Marko Hočevar, Cvetka Bilban-Jakopin, Katarina Lokar, Srdjan Novaković, Vida Stegel, Miljeva Rener, Aleš Vakselj, Erik Teugels, Jacques De Grève, 2006, published scientific conference contribution Published in DiRROS: 16.09.2019; Views: 1868; Downloads: 501 Full text (613,34 KB) |