171. Poročilo o preskusu št.: LVG 2022-178 : vzorec št. 2022/00648Ana Brglez, Maša Zagorac, Špela Jagodic, Zina Devetak, Barbara Piškur, 2022, izvedensko mnenje, arbitražna odločba Ključne besede: varstvo gozdov, morfološke analize, bor, borov smolasti rak, Fusarium circinatum
Objavljeno v DiRROS: 20.10.2022; Ogledov: 409; Prenosov: 0 |
172. Poročilo o preskusu št.: LVG 2022-174 : vzorec št. 2022/00601Ana Brglez, Barbara Piškur, Zina Devetak, Maša Zagorac, Špela Jagodic, 2022, izvedensko mnenje, arbitražna odločba Ključne besede: varstvo gozdov, morfološke analize, bor, borov smolasti rak, Fusarium circinatum
Objavljeno v DiRROS: 19.10.2022; Ogledov: 370; Prenosov: 0 |
173. Poročilo o preskusu št.: LVG 2022-173 : vzorec št. 2022/00600Barbara Piškur, Ana Brglez, Maša Zagorac, Špela Jagodic, Zina Devetak, 2022, izvedensko mnenje, arbitražna odločba Ključne besede: varstvo gozdov, morfološke analize, bor, borov smolasti rak, Fusarium circinatum
Objavljeno v DiRROS: 19.10.2022; Ogledov: 343; Prenosov: 0 |
174. Poročilo o preskusu št.: LVG 2022-172 : vzorec št. 2022/00611Barbara Piškur, Ana Brglez, Maša Zagorac, Špela Jagodic, Zina Devetak, 2022, izvedensko mnenje, arbitražna odločba Ključne besede: varstvo gozdov, morfološke analize, bor, borov smolasti rak, Fusarium circinatum
Objavljeno v DiRROS: 19.10.2022; Ogledov: 362; Prenosov: 0 |
175. Poročilo o preskusu št.: LVG 2022-171 : vzorec št. 2022/00619Barbara Piškur, Ana Brglez, Maša Zagorac, Špela Jagodic, Zina Devetak, 2022, izvedensko mnenje, arbitražna odločba Ključne besede: varstvo gozdov, morfološke analize, bor, borov smolasti rak, Fusarium circinatum
Objavljeno v DiRROS: 19.10.2022; Ogledov: 373; Prenosov: 0 |
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177. Medullary thyroid carcinoma and associated endocrinopathies in Slovenia from 1995 to 2021Sara Milićević, Mateja Krajc, Ana Blatnik, Barbara Perić, 2022, izvirni znanstveni članek Povzetek: Background: Medullary thyroid cancer (MTC) is a rare endocrine tumour that is sporadic in 75% of cases and occurs as a part of inherited cancer syndromes in approximately 25% of cases. The aim of this study was to determine the frequency and type of RET pathogenic variants (PVs) in the Slovenian MTC patient population diagnosed between 1995 and 2021 and to elucidate the full range of associated endocrinopathies. Methods: A retrospective analysis of medical records of 266 MTC patients and their relatives seen in a tertiary centre between 1995 and 2021 was performed. Sequence analysis of exons 10, 11, 13, 14, 15, and 16 of the RET gene was analysed in most patients using Sanger sequencing. From 2017, the entire sequence of RET gene was analysed in most patients using targeted next-generation sequencing. Results: Germline PVs in the RET proto-oncogene were identified in 21.6% probands from 21 different MTC families. Of their tested relatives, 65% (67/103) were RET-positive and 35% (36/103) were RET-negative. PVs were detected in codon 618 and codon 634 in 28.6%, and in codon 790 in 23.8%. The RET-positive group consisted of 52 MTC patients, 13 patients with C cell hyperplasia and 2 individuals with neither. Associated endocrinopathies were diagnosed in 8/21 families: primary hyperparathyroidism (PHPT) in six families and pheochromocytoma (PHEO) in five families. In 62% of RET-positive families (13/21), no associated endocrinopathies were diagnosed. PHEO was most commonly associated with C634R (6/13) and PHPT with C634R (4/7). Hirschsprung’s disease appeared in one patient with RET PV in codon 618. Based on data from the Cancer Registry of Republic of Slovenia, only individual cases of common cancers with well understood environmental risk factors were discovered; lung cancer in 2/21 of families, papillary thyroid cancer in 3/21 of families, cutaneous melanoma in 2/21 of families, cervical cancer in 1/21 families, and lymphoma in 1/21 families. Conclusions: Analysis of prospectively collected MTC cases during a 27-year period revealed that 21.6% of Slovenian patients are RET PV carriers. Sixty-two percent of families had none of the associated endocrinopathies, confirming the thesis that FMTC is the most common presentation. This could suggest using risk-stratified management approaches when screening for PHEO and PHPT in RET PV carriers. However, more studies are needed to evaluate potential genetic risk modifiers as well as safety, improved quality of life, and medical cost reduction in the case of a patient-oriented approach.
Ključne besede: medullary thyroid carcinoma, multiple endocrine neoplasia, primary hyperparathyroidism
Objavljeno v DiRROS: 23.09.2022; Ogledov: 537; Prenosov: 250
 Celotno besedilo (248,03 KB)
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178. Trends and timing of risk-reducing mastectomy uptake in unaffected BRCA1 and BRCA2 carriers in SloveniaTaja Ložar, Janez Žgajnar, Andraž Perhavec, Ana Blatnik, Srdjan Novaković, Mateja Krajc, 2021, izvirni znanstveni članek Povzetek: 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.
Ključne besede: risk-reducing mastectomy, breast cancer, BRCA
Objavljeno v DiRROS: 21.09.2022; Ogledov: 444; Prenosov: 150
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179. New approach for detection of normal alternative splicing events and aberrant spliceogenic transcripts with long-range PCR and deep RNA sequencingVita 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: 458; Prenosov: 254
Celotno besedilo (1,89 MB)
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180. BAP1-defficient breast cancer in a patient with BAP1 cancer syndromeAna 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: 465; Prenosov: 186
Celotno besedilo (1,12 MB) |
