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Title:BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome
Authors:ID Blatnik, Ana (Author)
ID Ribnikar, Domen (Author)
ID Šetrajčič Dragoš, Vita (Author)
ID Novaković, Srdjan (Author)
ID Stegel, Vida (Author)
ID Grčar-Kuzmanov, Biljana (Author)
ID Boc, Nina (Author)
ID Perić, Barbara (Author)
ID Škerl, Petra (Author)
ID Klančar, Gašper (Author)
ID Krajc, Mateja (Author)
Files:.pdf PDF - Presentation file, download (1,12 MB)
MD5: E522C712A5F7E5EC886C5E2CD9634B5E
 
Language:English
Typology:1.01 - Original Scientific Article
Organization:Logo OI - Institute of Oncology
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
Publication status:Published
Publication version:Version of Record
Publication date:05.04.2022
Publisher:Springer
Year of publishing:2022
Number of pages:str. 921–927
Numbering:Vol. 29
PID:20.500.12556/DiRROS-15559 New window
UDC:618.1
ISSN on article:1340-6868
DOI:10.1007/s12282-022-01354-0 New window
COBISS.SI-ID:104001539 New window
Copyright:by Authors
Publication date in DiRROS:19.09.2022
Views:412
Downloads:169
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Record is a part of a journal

Title:Breast cancer
Shortened title:Breast cancer
Publisher:Japanese Breast Cancer Society
ISSN:1340-6868
COBISS.SI-ID:514824473 New window

Document is financed by a project

Funder:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Project number:P3-0289-2019
Name:Značilnosti malignih neoplazem, pomembne za diagnozo ter napoved poteka bolezni in izida zdravljenja

Funder:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Project number:P3-0352-2018
Name:Družine s povišano ali visoko ogroženostjo za raka: svetovanje, odkrivanje mutacij in preprečevanje raka

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:17.09.2022

Secondary language

Language:Slovenian
Keywords:BAP1, rak dojke, dedni raki, imunoterapija


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