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Query: "author" (Ksenija Strojnik) .

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1.
Dedni dejavniki, povezani z rakom prostate
Mateja Krajc, Ana Blatnik, Ksenija Strojnik, 2023, published scientific conference contribution

Abstract: Rak prostate je najpogostejši rak pri moških tako v svetu kot tudi v Sloveniji. Najpomembnejši nevarnostni dejavniki za raka prostate so starost, etnična pripadnost in družinska anamneza raka prostate. Rak prostate se lahko pojavlja v sklopu različnih dednih sindromov, kot sta npr. sindrom dednega raka dojk in/ ali jajčnikov in sindrom Lynch. Moških z rakom prostate in pozitivno družinsko anamnezo rakavih obolenj ne testiramo le zato, da bi ocenili njihovo ogroženost za razvoj drugih rakov v sklopu dednega sindroma. Zaradi razvoja specifičnih zdravil je izvid genetskega testiranja lahko pri njih pomemben tudi za načrtovanje zdravljenja. Zadnjih nekaj let smo priča hitremu razvoju genetskih testiranj za zarodne patogene in verjetno patogene različice v genih, ki visoko in zmerno ogrožajo za raka prostate in lahko napovedujejo agresivnost bolezni in odziv na specifično zdravljenje. Obenem se uveljavlja tudi genetsko testiranje vzorcev tumorske DNA, ki zazna tako zarodne kot pridobljene, t. i. somatske patogene različice, vpletene v proces kancerogeneze. Genetski izvid je pomemben tudi za krvne sorodnike testiranih. Če je v določenem genu prisotna zarodna patogena različica, je možno odkrivanje nosilcev te okvare tudi med ostalimi sorodniki. Zdravim nosilcem lahko tako omogočimo njim prilagojene presejalne programe za rake, za katere so lahko visoko ali zmerno ogroženi.
Keywords: rak prostate, dednost, genetika
Published in DiRROS: 02.02.2023; Views: 4; Downloads: 2
.pdf Full text (177,59 KB)

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Identification of spliceogenic variants beyond canonical GT-AG splice sites in hereditary cancer genes
Vita 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: 152; Downloads: 75
.pdf Full text (778,18 KB)
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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
Vida 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: 156; Downloads: 82
.pdf Full text (2,35 MB)
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