11. Identification of spliceogenic variants beyond canonical GT-AG splice sites in hereditary cancer genesVita Šetrajčič Dragoš, Ksenija Strojnik, Gašper Klančar, Petra Škerl, Vida Stegel, Ana Blatnik, Marta Banjac, Mateja Krajc, Srdjan Novaković, 2022, izvirni znanstveni članek Povzetek: Pathogenic/likely pathogenic variants in susceptibility genes that interrupt RNA splicing are a well-documented mechanism of hereditary cancer syndromes development. However, if RNA studies are not performed, most of the variants beyond the canonical GT-AG splice site are characterized as variants of uncertain significance (VUS). To decrease the VUS burden, we have bioinformatically evaluated all novel VUS detected in 732 consecutive patients tested in the routine genetic counseling process. Twelve VUS that were predicted to cause splicing defects were selected for mRNA analysis. Here, we report a functional characterization of 12 variants located beyond the first two intronic nucleotides using RNAseq in APC, ATM, FH, LZTR1, MSH6, PALB2, RAD51C, and TP53 genes. Based on the analysis of mRNA, we have successfully reclassified 50% of investigated variants. 25% of variants were downgraded to likely benign, whereas 25% were upgraded to likely pathogenic leading to improved clinical management of the patient and the family members. Ključne besede: hereditary cancer, RNA sequencing, spliceogenic Objavljeno v DiRROS: 07.09.2022; Ogledov: 464; Prenosov: 238 Celotno besedilo (778,18 KB) Gradivo ima več datotek! Več... |
12. 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, izvirni znanstveni članek Povzetek: 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. Ključne besede: BRCA, ovarian cancer, tumor genotyping, HBOC Objavljeno v DiRROS: 06.09.2022; Ogledov: 504; Prenosov: 275 Celotno besedilo (2,35 MB) Gradivo ima več datotek! Več... |
13. |
14. Priporočila za obravnavo bolnikov z rakom debelega črevesa in danke2020, slovar, enciklopedija, leksikon, priročnik, atlas, zemljevid Ključne besede: rak debelega črevesa, rak danke, bolniki, zdravljenje Objavljeno v DiRROS: 18.03.2022; Ogledov: 788; Prenosov: 428 Celotno besedilo (1,30 MB) Gradivo ima več datotek! Več... |
15. Priporočila diagnostike in zdravljenja raka dojkAna Blatnik, Andraž Perhavec, Barbara Gazić, Barbara Vidergar-Kralj, Erika Matos, Ivica Ratoša, Janez Žgajnar, Kristijana Hertl, Marko Hočevar, Mateja Krajc, Nikola Bešić, Simona Borštnar, Marija Snežna Paulin-Košir, Tanja Marinko, Ulrika Klopčič, 2021, ni določena Ključne besede: presejanje, asimptomatske bolnice, simptomatske bolnice, genetsko svetovanje, slikovna diagnostika, citopatologija, kirurško zdravljenje, sistemsko zdravljenje, algoritmi, radioterapija, elektronske knjige Objavljeno v DiRROS: 17.03.2022; Ogledov: 792; Prenosov: 477 Celotno besedilo (2,03 MB) Gradivo ima več datotek! Več... |
16. Klinična pot obravnave pacienta v Ambulanti za onkološko genetsko svetovanje in testiranjeMateja Krajc, Ana Blatnik, Tina Kerševan, Simona Hotujec, 2020, slovar, enciklopedija, leksikon, priročnik, atlas, zemljevid Ključne besede: genetika, rak prostate, genetsko testiranje, klinične poti Objavljeno v DiRROS: 16.03.2022; Ogledov: 662; Prenosov: 224 Celotno besedilo (345,65 KB) |
17. Prednostno genetsko testiranje na zarodne mutacije pri bolnikih z metastatskim rakom prostate/pankreasa/dojk, ki potrebujejo izvid za zdravljenje raka s PARP inhibitorjiKsenija Strojnik, Ana Blatnik, Marta Banjac, Simona Hotujec, Natalija Klopčič, Janja Ocvirk, Srdjan Novaković, Mateja Krajc, 2021, slovar, enciklopedija, leksikon, priročnik, atlas, zemljevid Ključne besede: genetika, rak prostate, genetsko testiranje, klinične poti Objavljeno v DiRROS: 16.03.2022; Ogledov: 652; Prenosov: 358 Celotno besedilo (354,42 KB) Gradivo ima več datotek! Več... |
18. 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, slovar, enciklopedija, leksikon, priročnik, atlas, zemljevid Ključne besede: rak jajčnikov, genetika, zdravljenje, klinične poti Objavljeno v DiRROS: 16.03.2022; Ogledov: 674; Prenosov: 339 Celotno besedilo (363,49 KB) Gradivo ima več datotek! Več... |
19. Kaj je dedni rak? : dedno pogojeni raki - genetsko svetovanje in testiranjeAna Blatnik, Mateja Krajc, Ksenija Strojnik, Srdjan Novaković, Barbara Perić, Marta Banjac, Janez Žgajnar, 2020, ni določena Ključne besede: medicinska genetika, genetsko testiranje Objavljeno v DiRROS: 11.03.2022; Ogledov: 728; Prenosov: 224 Celotno besedilo (1,43 MB) |
20. Klinična pot presejanja oseb z visoko ogroženostjo za razvoj raka trebušne slinavkeBarbara Perić, Ana Blatnik, Aleš Tomažič, Aleksandar Gavrić, Borut Štabuc, Srdjan Novaković, Mateja Krajc, 2021, slovar, enciklopedija, leksikon, priročnik, atlas, zemljevid Ključne besede: rak trebušne slinavke, bolniki, klinične poti Objavljeno v DiRROS: 14.02.2022; Ogledov: 800; Prenosov: 336 Celotno besedilo (868,10 KB) Gradivo ima več datotek! Več... |