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Query: "author" (Srdjan Novaković) .

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21.
Molekularno genetsko testiranje pri raku telesa maternice
Vida Stegel, Srdjan Novaković, 2023, published scientific conference contribution

Abstract: V grobem tumorje telesa maternice delimo na endometrijske epitelne, mezenhimske, mešane epitelne in mezenhimske in druge. Karcinom endometrija, ki sodi med epitelne tumorje, predstavlja večino (80-90 %) vseh malignih bolezni telesa maternice. Sarkomi predstavljajo 2- 5 % vseh malignih bolezni telesa maternice. Molekularno genetske preiskave se pri obravnavi tumorjev telesa maternice uporabljajo za namen odkrivanja različic/markerjev pomembnih za diagnozo, prognozo ali zdravljenje bolezni. Pato-histološka klasifikacija karcinoma endometrija je v preteklosti temeljila predvsem na morfoloških značilnostih tumorja, v zadnjem času pa se je izoblikovala histološko-molekularna klasifikacija, ki upošteva tudi molekularne značilnosti tumorja. Upoštevajoč molekularno klasifikacijo TCGA (The Cancer Genome Atlas), pri karcinomih endometrija ločimo med POLE-ultramutirani tumorji, mikrosatelitno nestabilnimi tumorji, tumorji s številnimi spremembami v številu kopij genov in tumorji z maloštevilnimi spremembami v številu kopij genov. Molekularne podskupine karcinoma endometrija so tudi neodvisen prognostični dejavnik. Določene molekulano genetske lastnosti vplivajo tudi na izbiro zdravljenja.
Keywords: rak maternice, ginekološki raki, molekularna diagnostika
Published in DiRROS: 30.05.2023; Views: 371; Downloads: 120
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22.
23.
Genetsko testiranje pri raku prostate
Vida Stegel, Srdjan Novaković, 2023, published scientific conference contribution

Abstract: Rak prostate je v svetovnem merilu drugi najpogostejši rak pri moških. Genetski dejavniki lahko pomembno zvišajo tveganje za rak prostate. Genetsko testiranje na zarodne patogene različice v genih BRCA1, BRCA2, ATM, PALB2, CHEK2, HOXB13, MLH1, MSH2, MSH6 in PMS2 se izvaja za ocenjevanje ogroženosti bolnika, da zboli za drugimi raki, in za oceno ogroženosti njegovih družinskih članov. Pri metastatskem raku prostate se za zdravljenje uporabljajo tarčna zdravila, kot so zaviralci poli-ADP-riboza polimeraze (PARP) in imunoterapija. Obe vrsti zdravil sta dokazano bolj učinkoviti pri delovanju na tumorje s specifičnimi okvarami v genih, ki so soudeleženi v mehanizmih za popravljanje napak na DNA, t. j. homologne rekombinacije (HR) ali popravljanje neujemanj baz (MMR). Zato molekularnogenetsko testiranje tumorjev bolnikov z rakom prostate uporabljamo za določanje okvar HR in okvar v genih MMR. Kot pomoč pri natančnejši opredelitvi lokaliziranega raka prostate in sub-klasifikaciji glede na verjetnost napredovanja bolezni se v zadnjem času preizkušajo tudi molekularnogenetske preiskave, ki temeljijo na merjenju ekspresije različnih genov v kombinaciji z drugimi kliničnimi in histopatološkimi dejavniki.
Keywords: rak prostate, genetsko testiranje, diagnostika
Published in DiRROS: 02.02.2023; Views: 475; Downloads: 106
.pdf Full text (154,93 KB)

24.
25.
Molekularna diagnostika raka dojk
Srdjan Novaković, 2022, published professional conference contribution

Abstract: Rak je bolezen, ki nastane kot posledica delovanja številnih dejavnikov (genetskih, okoljskih, življenjskega sloga), ki povzročijo maligno spremembo celice. S stališča molekularne biologije in genetike razlikujemo dedne in sporadične oblike raka. Genetske spremembe, ki jih opredeljujemo z metodami molekularne diagnostike, nam lahko služijo za različne namene: 1. oceno tveganja, da oseba zboli za rakom, 2. natančnejšo opredelitev tumorjev, 3. oceno prognoze bolezni, 4. napoved odgovora na zdravljenje, 5. napoved presnavljanja zdravil, 6. spremljanje odgovora na zdravljenje, 7. godnje odkrivanje ponovitve bolezni. V tem prispevku podajam osnovni pregled uporabe molekularne diagnostike pri raku dojk. Prispevek vključuje molekularno diagnostiko dednih oblik raka in molekularno diagnostiko sporadičnih oblik raka glede na trenutno veljavne mednarodne smernice.
Keywords: rak dojk, diagnostika, onkologija
Published in DiRROS: 22.12.2022; Views: 339; Downloads: 98
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26.
34. onkološki vikend : ob 25-letnici Združenja za senologijo SZD
2022, not set

Published in DiRROS: 30.11.2022; Views: 411; Downloads: 130
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28.
Treatment outcomes and relative dose intensity of chemotherapy in patients with advanced Hodgkin lymphoma
Samo Rožman, Barbara Jezeršek Novaković, Nina Ružić Gorenjec, Srdjan Novaković, 2022, original scientific article

Abstract: The present retrospective study was undertaken to investigate the association of relative dose intensity (RDI) with the outcome of patients with advanced stage Hodgkin lymphoma (HL) receiving ABVD (doxorubicin, bleomycin, vinblastine, dacarbazine) and escalated BEACOPP regimens (bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine, procarbazine, prednisone). A total of 114 patients with HL treated between 2004 and 2013 were enrolled for evaluation. The association of variables with overall survival (OS) and progression-free survival (PFS) was analysed using univariate and multivariate Cox proportional hazards models. The median age of patients was 39 years, and the majority were male and had stage IV disease. A total of 54 patients received ABVD and 60 received BEACOPP chemotherapy with 24 and four deaths, respectively. Patients in the BEACOPP group were significantly younger with lower Charlson comorbidity index (CCI) and better performance status in comparison with the ABVD group, making the comparison of groups not possible. In the ABVD group, RDI was not significantly associated with OS (P=0.590) or PFS (P=0.354) in a multivariate model where age was controlled. The low number of events prevented this analysis in the BEACOPP group. The age of patients was strongly associated with both OS and PFS; all statistically significant predictors for OS and PFS from univariate analyses (chemotherapy regimen, CCI, RDI, performance status) lost their effect in multivariate analyses where age was controlled. Based on these observations, it was concluded that RDI was not associated with OS or PFS after age is controlled, neither in all patients combined nor in the ABVD group.
Keywords: Hodgkin lymphoma, chemotherapy, outcome, primary treatment
Published in DiRROS: 23.09.2022; Views: 498; Downloads: 151
.pdf Full text (794,55 KB)

29.
Trends and timing of risk-reducing mastectomy uptake in unaffected BRCA1 and BRCA2 carriers in Slovenia
Taja Ložar, Janez Žgajnar, Andraž Perhavec, Ana Blatnik, Srdjan Novaković, Mateja Krajc, 2021, original scientific article

Abstract: Objectives. Risk-reducing mastectomy (RRM) is one of key prevention strategies in female carriers of germline BRCA pathogenic/likely pathogenic variants (PV/LPV). We retrospectively investigated the rate, timing and longitudinal trends of bilateral RRM uptake and the incidence and types of cancers among unaffected BRCA carriers who underwent genetic counseling at the Institute of Oncology Ljubljana in Slovenia. Materials and Methods. Female BRCA carriers without personal history of cancer were included in the study. Clinical data on PV/LPV type, date of RRM, type of reconstructive procedure, occult carcinoma and histopathology results was collected and analyzed. Results. Of the 346 unaffected BRCA carriers (median age 43 years, 70% BRCA1, 30% BRCA2, median follow-up 46 months) who underwent genetic testing between October 1999 and December 2019, 25.1% had a RRM (range 35-50 years, median age at surgery 38 years). A significant difference in time to prophylactic surgery between women undergoing RRM only vs. women undergoing RRM combined with risk-reducing salpingo-oophorectomy was observed (22.6 vs 8.7 months, p=0.0009). We observed an upward trend in the annual uptake in line with the previously observed Angelina Jolie effect. In 5.7% of cases, occult breast cancer was detected. No women developed breast cancer after RRM. Women who did not opt for surgical prevention developed BRCA1/2-related cancers (9.3%). Conclusion. The uptake of RRM among unaffected BRCA carriers is 25.1% and is similar to our neighboring countries. No women developed breast cancer after RRM while women who did not opt for surgical prevention developed BRCA1/2 related cancers in 9.3% of cases. The reported data may provide meaningful aid for carriers when deciding on an optimal prevention strategy.
Keywords: risk-reducing mastectomy, breast cancer, BRCA
Published in DiRROS: 21.09.2022; Views: 407; Downloads: 136
.pdf Full text (593,94 KB)

30.
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, original scientific article

Abstract: 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.
Keywords: RNA sequencing, DNA variant, splicing
Published in DiRROS: 21.09.2022; Views: 399; Downloads: 231
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