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Article

BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome.

Breast cancer (Tokyo, Japan) - 1 Sept 2022

Blatnik Ana, Ribnikar Domen, Šetrajčič Dragoš Vita, Novaković Srdjan, Stegel Vida, Grčar Kuzmanov Biljana, Boc Nina, Perić Barbara, Škerl Petra, Klančar Gašper, Krajc Mateja

Abstract excerpt

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...

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Identifiers

PMID: 35381901
DOI: 10.1007/s12282-022-01354-0
PMCID: PMC9385750

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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