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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, 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: 58; Downloads: 30
.pdf Full text (1,12 MB)

Radiološka ocena odgovora na stereotaktično obsevanje
Nina Boc, 2020, published professional conference contribution

Keywords: stereotaktično obsevanje, medicinska fizika, obsevalne tehnike
Published in DiRROS: 14.04.2022; Views: 193; Downloads: 90
.pdf Full text (518,84 KB)

Prikaz primera: hipofizitis ob imunoterapiji metastatskega melanoma (MR značilnosti) : Elektronski vir
Tadeja Skok, Nina Boc, 2022, published scientific conference contribution

Keywords: melanom, rak kože, hipofizitis
Published in DiRROS: 11.04.2022; Views: 235; Downloads: 87
.pdf Full text (236,78 KB)

Slikovne preiskave pri bolnikih z melanomom : Elektronski vir
Nina Boc, Tadeja Skok, 2022, published scientific conference contribution

Keywords: melanom, rak kože, radiologija
Published in DiRROS: 08.04.2022; Views: 253; Downloads: 83
.pdf Full text (309,93 KB)

Vloga radiomike v napovedovanju učinkovitosti zdravljenja z imunoterapijo pri bolnikih z rakom pljuč
Martina Vrankar, Damijan Valentinuzzi, Nina Boc, Mojca Unk, 2021, published scientific conference contribution

Keywords: rak pljuč, radiomika, imunoterapija
Published in DiRROS: 04.04.2022; Views: 208; Downloads: 78
.pdf Full text (293,52 KB)

Kako je imunoterapija spremenila ocenjevanje v slikovni diagnostiki (irecist)
Nina Boc, 2021, published professional conference contribution

Keywords: imunoterapija, radioterapija, onkološko zdravljenje
Published in DiRROS: 29.03.2022; Views: 136; Downloads: 79
.pdf Full text (69,15 KB)
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Priporočila za obravnavo bolnikov z rakom debelega črevesa in danke
2020, dictionary, encyclopaedia, lexicon, manual, atlas, map

Keywords: rak debelega črevesa, rak danke, bolniki, zdravljenje
Published in DiRROS: 18.03.2022; Views: 287; Downloads: 136
.pdf Full text (1,30 MB)
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