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BAP1-defficient breast cancer in a patient with BAP1 cancer syndromeBlatnik, Ana, 9.8.1980- ...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.Source: Breast cancer. - ISSN 1340-6868 (Vol. 29, 2022, str. 921–927)Type of material - article, component partPublish date - 2022Language - englishCOBISS.SI-ID - 104001539
Author
Blatnik, Ana, 9.8.1980- |
Ribnikar, Domen |
Šetrajčič Dragoš, Vita |
Novaković, Srdjan |
Stegel, Vida |
Grčar-Kuzmanov, Biljana |
Boc, Nina, dr. med. |
Perić, Barbara, 1976- |
Škerl, Petra, doktorica biologije |
Klančar, Gašper, 1988- |
Krajc, Mateja
Topics
BAP1 |
rak dojke |
dedni raki |
imunoterapija |
BAP1 |
breast cancer |
hereditary cancer syndromes |
immunotherapy
Author | Blatnik, Ana, 9.8.1980- ... |
Title | BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome |
Publication date | 2022-04-05 |
COBISS.SI-ID | 104001539 |
Publication version in repository | Publisher's version |
Publication licence | Creative Commons Attribution 4.0 International |
Embargo | Immediate publication for public |
Project(s) from which the publication was funded
Title | Acronym | Project ID | Funder |
---|---|---|---|
Značilnosti malignih neoplazem, pomembne za diagnozo ter napoved poteka bolezni in izida zdravljenja | P3-0289-2019 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
|
Družine s povišano ali visoko ogroženostjo za raka: svetovanje, odkrivanje mutacij in preprečevanje raka | P3-0352-2018 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
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https://dirros.openscience.si/IzpisGradiva.php?id=15559 |
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Blatnik, Ana, 9.8.1980- | 32428 |
Ribnikar, Domen | 36202 |
Šetrajčič Dragoš, Vita | 51870 |
Novaković, Srdjan | 08007 |
Stegel, Vida | 23343 |
Grčar-Kuzmanov, Biljana | 52449 |
Boc, Nina, dr. med. | 39650 |
Perić, Barbara, 1976- | 24299 |
Škerl, Petra, doktorica biologije | 28388 |
Klančar, Gašper, 1988- | 34575 |
Krajc, Mateja | 27594 |
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