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Article

Intrahepatic cholangiocarcinoma development in a patient with a novel BAP1 germline mutation and low exposure to asbestos.

Cancer genetics - 1 Oct 2020

Brandi G, Deserti M, Palloni A, Turchetti D, Zuntini R, Pedica F, Frega G, De Lorenzo S, Abbati F, Rizzo A, Di Marco M, Massari F, Tavolari S

Abstract excerpt

BRCA1 associated protein-1 (BAP1) germline mutations define a novel hereditary cancer syndrome, namely BAP1 tumor predisposition syndrome (BAP1-TPDS), characterized by an increased susceptibility to develop different cancer types, including mesothelioma, uveal and cutaneous melanoma, renal cell carcinoma, and basal cell and squamous cell carcinoma. Currently, the role of BAP1 germline mutations in intrahepatic...

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Identifiers

PMID: 33093002
DOI: 10.1016/j.cancergen.2020.10.001

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