191. 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, original scientific article Abstract: 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. Keywords: hereditary cancer, RNA sequencing, spliceogenic Published in DiRROS: 07.09.2022; Views: 527; Downloads: 267 Full text (778,18 KB) This document has many files! More... |
192. 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: 576; Downloads: 303 Full text (2,35 MB) This document has many files! More... |
193. Cancer patients’ survival according to socioeconomic environment in a high-income country with universal health coverageVesna Zadnik, Tina Žagar, Sonja Tomšič, Ana Mihor, Katarina Lokar, 2022, original scientific article Abstract: Despite having an established systematic approach to population survival estimation in Slovenia, the influence of socioeconomic environment on cancer patients’ survival has not yet been evaluated. Thus, the main aim of our study was to quantify the potential impact of socioeconomic environment on cancer patients’ survival in our population in the 21st century. The net survival was calculated and stratified into quintiles of Slovenian version of the European Deprivation Index for all adult cancer patients diagnosed between 2004 and 2018 using the national cancer registry data. After accounting for basic demographic variables (age and gender), differences in stage at diagnosis, as well as the impact of the cancer treatment improvements over time, we found that cancer patients in Slovenia with lower socioeconomic status experience worse survival and have higher mortality. In particular, the odds of dying from oral, stomach, colorectal, liver, pancreatic, lung, breast, ovarian, corpus uteri, prostate, and bladder cancers, as well as for melanoma, leukemia, and non-Hodgkin lymphoma, are significantly higher in the socioeconomically most deprived group of patients compared to the most affluent group. The inequalities in cancer burden we found could help decision-makers to better understand the magnitude of this problem. Keywords: cancer, population-survival, socioeconomic deprivation, cancer registry Published in DiRROS: 06.09.2022; Views: 500; Downloads: 277 Full text (1,06 MB) This document has many files! More... |
194. |
195. Poročilo o preskusu št.: LVG 2022-083 : vzorec št. 2022/00417Ana Brglez, Špela Jagodic, Zina Devetak, Barbara Piškur, 2022, expertise, arbitration decision Keywords: varstvo gozdov, morfološke analize, bor, Dothistroma, Lecanosticta, rjavenje borovih iglic, rdeča pegavost borovih iglic Published in DiRROS: 01.09.2022; Views: 475; Downloads: 0 |
196. Poročilo o preskusu št.: LVG 2022-076 : vzorec št. 2022/00308Barbara Piškur, Ana Brglez, Špela Jagodic, Nikica Ogris, 2022, expertise, arbitration decision Keywords: varstvo gozdov, morfološke analize, navadna smreka, Picea abies, Macrophomina phaseolina, traheomikoza, venenje sadik iglavcev, polifag Published in DiRROS: 22.08.2022; Views: 566; Downloads: 0 |
197. |
198. Gospodarjenje s tujerodnimi drevesnimi vrstami v urbanem prostoru alpskega prostoraAjša Alagić, Aleksander Marinšek, Ana Dolenc, Andrey Krasovskiy, Anica Simčič, Anja M. Bindewald, Anja Müller-Meißner, Bénédicte Baxerres, Claudia Cocozza, Debojyoti Chakraborty, Janez Kermavnar, Lado Kutnar, Simon Zidar, Tina Trampuš, Živa Bobič Červek, 2022, dictionary, encyclopaedia, lexicon, manual, atlas, map Keywords: tujerodne drevesne vrste, Alpe, invazivne drevesne vrste, gospodarjenje z gozdovi, podnebne spremembe, urbani prostor Published in DiRROS: 12.08.2022; Views: 1256; Downloads: 289 Full text (4,27 MB) |
199. Handbook for non native tree species in the urban spaceAjša Alagić, Aleksander Marinšek, Ana Dolenc, Andrey Krasovskiy, Anica Simčič, Anja M. Bindewald, Anja Müller-Meißner, Bénédicte Baxerres, Claudia Cocozza, Debojyoti Chakraborty, Janez Kermavnar, Lado Kutnar, Simon Zidar, Tina Trampuš, Živa Bobič Červek, 2022, dictionary, encyclopaedia, lexicon, manual, atlas, map Keywords: non-native tree species, Alps, invasive alien species, forest management, urbanspace, climate changes Published in DiRROS: 12.08.2022; Views: 616; Downloads: 220 Full text (4,25 MB) |
200. Gospodarjenje s tujerodnimi drevesnimi vrstami v gozdovih alpskega prostoraSonia Abluton, Ajša Alagić, Bénédicte Baxerres, Frédéric Berger, Anja M. Bindewald, Sylvain Bouquet, Martin Braun, Giuseppe Brundu, Patricia Detry, Freya-Isabel Georges, Janez Kermavnar, Lado Kutnar, Aleksander Marinšek, Anica Simčič, Simon Zidar, 2022, dictionary, encyclopaedia, lexicon, manual, atlas, map Keywords: tujerodne drevesne vrste, Alpe, invazivne drevesne vrste, gospodarjenje z gozdovi, podnebne spremembe Published in DiRROS: 12.08.2022; Views: 1269; Downloads: 257 Full text (3,25 MB) |