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312. 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, original scientific article Abstract: 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.
Keywords: BAP1, breast cancer, hereditary cancer syndromes, immunotherapy
Published in DiRROS: 19.09.2022; Views: 482; Downloads: 189
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313. First report of Diplodia fraxini and Diplodia subglobosa causing canker and dieback of Fraxinus excelsior in SloveniaBenedetto Teodoro Linaldeddu, Carlo Bregant, Lucio Montecchio, Ana Brglez, Barbara Piškur, Nikica Ogris, 2022, other scientific articles Abstract: Over the last decades the vitality and productivity of European ash trees in Slovenia has been seriously impacted by the onset of canker and dieback disease symptoms on young and old trees, primarily identified as ash dieback caused by Hymenoscyphus fraxineus. Given the limited information available about the aetiology of this emerging disease, a study was carried out to isolate, identify and characterize the fungal species involved in the observed ash symptoms. Field surveys were conducted in five forest sites where 50 symptomatic branch samples were collected. All samples were inspected and used for fungal isolation. Based on morphology, colony appearance and DNA sequence data of the internal transcribed spacer region (ITS), 125 fungal colonies belonging to five species were isolated and identified. Only a few symptomatic ash samples yielded colonies of H. fraxineus, whereas Botryosphaeriaceae species were isolated with a high frequency, with Diplodia fraxini as the dominant species. A pathogenicity test proved that all isolated species were pathogenic on European ash, causing bark lesions and wood discoloration. All Botryosphaeriaceae species isolated in this study are reported for the first time on European ash in Slovenia.
Keywords: emerging disease, invasive species, Botryosphaeriaceae, pathogenicity
Published in DiRROS: 15.09.2022; Views: 478; Downloads: 201
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316. Analysis of putative apoplastic effectors from the nematode, Globodera rostochiensis, and identification of an expansin-like protein that can induce and suppress host defensesBarbara Gerič Stare, Shawkat Ali, Maxime Magne, Shiyan Chen, Olivier Côte, Natasa Obradovic, Lubna Jamshaid, Xiaohong Wang, Guy Bélair, Peter Moffett, 2015, original scientific article Keywords: nematode, expansin-like protein, expansin, potato cyst nematode, potato pest, parasitic nematodes, plant celular function
Published in DiRROS: 06.09.2022; Views: 505; Downloads: 216
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317. Uporaba naprednih tehnologij za celostno obvladovanje ogorčic koreninskih šišk (Meloidogyne spp., Nematoda: Meloidogynidae)Nik Susič, 2020, doctoral dissertation Abstract: Tropske vrste ogorčic koreninskih šišk (RKN) so izredno polifagni škodljivci v kmetijstvu, kjer povzročajo velike izgube pridelka. Nekatere vrste, kot so Meloidogyne ethiopica, M. inornata in M. luci (MEG), je zaradi visoke sorodnosti težavno razlikovati. Sekvencirali smo 7 izolatov ogorčic iz skupine MEG ter po zlaganju zaporedij genomov določili filogenetsko umestitev v rod. Zloženi genom ogorčice M. luci SI-Smartno V13 je s 327 kontigi, N50 dolžini kontigov 1,7 Mb in končni dolžini zloženega zaporedja 209,2 Mb, trenutno najpopolnejši javno dostopen genom RKN. Filogenetska analiza je pokazala na umestitev vseh izolatov iz skupine MEG v enoten monofiletski klad, vrsta M. luci se je bistveno razlikovala od vrst M. ethiopica in M. inornata. Preizkušali smo uporabnost hiperspektralnega slikanja za zgodnje razločevanje biotskega stresa (napad RKN) od abiotskega stresa (suša) pri rastlinah paradižnika. Z analizo hiperspektralnih posnetkov v območju spektra 400-2500 nm je bilo mogoče razlikovati med dobro zalitimi ter sušnimi rastlinami s 100 % natančnostjo, z 90-100 % natančnostjo pa je bilo mogoče razlikovati med zdravimi in napadenimi rastlinami. Ovrednotili smo nematicidno aktivnost in analizirali genoma bakterij Bacillus firmus I-1582 in Bacillus sp. ZZV12-4809, v katerih smo našli številne potencialne dejavnike virulence. V lončnih poskusih in na mikroparcelah je sev I-1582 zmanjšal število ogorčic M. luci za 51-53 % v primerjavi s kontrolo. Bakterije I-1582 so delovale nematicidno ter spodbudile rast rastlin, kar smo pokazali z meritvami morfologije rastlin, relativne vsebnosti klorofila, vsebnostjo elementov in analizo hiperspektralnih posnetkov. Z analizo hiperspektralnih posnetkov z nadzorovano klasifikacijo smo uspešno razlikovali med rastlinami tretiranimi z B. firmus in rastlinami brez bakterij – v lončnem poskusu smo dosegli 97,4 % uspešnost, na mikroparcelah pa 96,3 %.
Keywords: ogorčice koreninskih šišk, filogenomika, hiperspektralno slikanje, biotično varstvo rastlin, Meloidogyne spp., Bacillus firmus, doktorske disertacije
Published in DiRROS: 06.09.2022; Views: 728; Downloads: 226
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319. Poročilo o preskusu št.: LVG 2022-088 : vzorec št. 2022/00444Nikica Ogris, Zina Devetak, Špela Jagodic, Barbara Piškur, 2022, expertise, arbitration decision Keywords: varstvo gozdov, morfološke analize, bor, borov smolasti rak, Fusarium circinatum
Published in DiRROS: 02.09.2022; Views: 410; Downloads: 0 |
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