Digitalni repozitorij raziskovalnih organizacij Slovenije

Iskanje po repozitoriju
A+ | A- | Pomoč | SLO | ENG

Iskalni niz: išči po
išči po
išči po
išči po

Možnosti:
  Ponastavi


Iskalni niz: "avtor" (Vida Stegel) .

1 - 10 / 17
Na začetekNa prejšnjo stran12Na naslednjo stranNa konec
1.
2.
New approach for detection of normal alternative splicing events and aberrant spliceogenic transcripts with long-range PCR and deep RNA sequencing
Vita Šetrajčič Dragoš, Vida Stegel, Ana Blatnik, Gašper Klančar, Mateja Krajc, Srdjan Novaković, 2021, izvirni znanstveni članek

Povzetek: RNA sequencing is a promising technique for detecting normal and aberrant RNA isoforms. Here, we present a new single-gene, straightforward 1-day hands-on protocol for detection of splicing alterations with deep RNA sequencing from blood. We have validated our method%s accuracy by detecting previously published normal splicing isoforms of STK11 gene. Additionally, the same technique was used to provide the first comprehensive catalogue of naturally occurring alternative splicing events of the NBN gene in blood. Furthermore, we demonstrate that our approach can be used for detection of splicing impairment caused by genetic variants. Therefore, we were able to reclassify three variants of uncertain significance: NBN:c.584G>A, STK11:c.863-5_863-3delCTC and STK11:c.615G>A. Due to the simplicity of our approach, it can be incorporated into any molecular diagnostics laboratory for determination of variant%s impact on splicing.
Ključne besede: RNA sequencing, DNA variant, splicing
Objavljeno v DiRROS: 21.09.2022; Ogledov: 97; Prenosov: 57
.pdf Celotno besedilo (1,89 MB)
Gradivo ima več datotek! Več...

3.
BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome
Ana Blatnik, Domen Ribnikar, Vita Šetrajčič Dragoš, Srdjan Novaković, Vida Stegel, Biljana Grčar-Kuzmanov, Nina Boc, Barbara Perić, Petra Škerl, Gašper Klančar, Mateja Krajc, 2022, izvirni znanstveni članek

Povzetek: BAP1 cancer syndrome is a rare and highly penetrant hereditary cancer predisposition. Uveal melanoma, mesothelioma, renal cell carcinoma (RCC) and cutaneous melanoma are considered BAP1 cancer syndrome core cancers, whereas association with breast cancer has previously been suggested but not confirmed so far. In view of BAP1 immunomodulatory functions, BAP1 alterations could prove useful as possible biomarkers of response to immunotherapy in patients with BAP1-associated cancers. We present a case of a patient with BAP1 cancer syndrome who developed a metastatic breast cancer with loss of BAP1 demonstrated on immunohistochemistry. She carried a germline BAP1 likely pathogenic variant (c.898_899delAG p.(Arg300Glyfs*6)). In addition, tumor tissue sequencing identified a concurrent somatic variant in BAP1 (partial deletion of exon 12) and a low tumor mutational burden. As her triple negative tumor was shown to be PD-L1 positive, the patient was treated with combination of atezolizumab and nab-paclitaxel. She had a complete and sustained response to immunotherapy even after discontinuation of nab-paclitaxel. This case strengthens the evidence for including breast cancer in the BAP1 cancer syndrome tumor spectrum with implications for future cancer prevention programs. It also indicates immune checkpoint inhibitors might prove to be an effective treatment for BAP1-deficient breast cancer.
Ključne besede: BAP1, breast cancer, hereditary cancer syndromes, immunotherapy
Objavljeno v DiRROS: 19.09.2022; Ogledov: 109; Prenosov: 45
.pdf Celotno besedilo (1,12 MB)

4.
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, 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: 120; Prenosov: 56
.pdf Celotno besedilo (778,18 KB)
Gradivo ima več datotek! Več...

5.
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, 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: 127; Prenosov: 61
.pdf Celotno besedilo (2,35 MB)
Gradivo ima več datotek! Več...

6.
7.
Vloga molekularne diagnostike pri raku jajčnikov
Vida Stegel, Srdjan Novaković, 2021, objavljeni povzetek znanstvenega prispevka na konferenci

Ključne besede: rak jajčnikov, molekularna diagnostika, laboratorijski izvidi
Objavljeno v DiRROS: 16.06.2021; Ogledov: 670; Prenosov: 276
.pdf Celotno besedilo (9,91 MB)
Gradivo ima več datotek! Več...

8.
Dokazovanje mutacij v BRCA1 genu z analizo talitvene krivulje PCR produktov
Srdjan Novaković, Vida Stegel, Mateja Krajc, Janez Žgajnar, Nikola Bešić, Marko Hočevar, Cvetka Bilban-Jakopin, Katarina Lokar, 2006, objavljeni znanstveni prispevek na konferenci

Objavljeno v DiRROS: 17.09.2019; Ogledov: 1844; Prenosov: 466
.pdf Celotno besedilo (184,79 KB)

9.
Dedni rak širokega črevesa
Mateja Krajc, Janez Žgajnar, Nikola Bešić, Marko Hočevar, Cvetka Bilban-Jakopin, Katarina Lokar, Srdjan Novaković, Vida Stegel, 2006, objavljeni strokovni prispevek na konferenci

Objavljeno v DiRROS: 17.09.2019; Ogledov: 1636; Prenosov: 433
.pdf Celotno besedilo (279,72 KB)

10.
Priprava hibridomov iz monocitov in tumorskih celic
Vida Stegel, Andreja Nataša Kopitar, Srdjan Novaković, 2004, objavljeni povzetek strokovnega prispevka na konferenci

Objavljeno v DiRROS: 17.09.2019; Ogledov: 1842; Prenosov: 433
.pdf Celotno besedilo (90,08 KB)

Iskanje izvedeno v 0.57 sek.
Na vrh