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12. Contrast-enhanced ultrasound for evaluation of tumor perfusion and outcome following treatment in a murine melanoma modelMaja Brložnik, Nina Boc, Maja Čemažar, Maša Omerzel, Monika Savarin, Nataša Kejžar, Gregor Serša, Darja Pavlin, Simona Kranjc Brezar, 2021, original scientific article Published in DiRROS: 23.09.2022; Views: 663; Downloads: 443
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13. 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: 639; Downloads: 260
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19. Priporočila za obravnavo bolnikov z rakom debelega črevesa in danke2020, dictionary, encyclopaedia, lexicon, manual, atlas, map Keywords: rak debelega črevesa, rak danke, bolniki, zdravljenje
Published in DiRROS: 18.03.2022; Views: 1065; Downloads: 579
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20. Priporočila za obravnavo bolnikov z adenokarcinomom tankega črevesa2021, not set Keywords: rak (medicina), epidemiologija, preventiva, dedna predispozicija, diagnostika, kirurško zdravljenje, adjuvantna terapija, sistemsko zdravljenje, radioterapija, sledenje pacientov, medicinska rehabilitacija, paliativna oskrba, elektronske knjige
Published in DiRROS: 17.03.2022; Views: 958; Downloads: 493
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