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01-06-2015 | Correspondence

Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome

Authors: Arnaud de la Fouchardière, Odile Cabaret, Justine Pètre, Selda Aydin, Alice Leroy, Patrick de Potter, Daniel Pissaloux, Véronique Haddad, Brigitte Bressac-de Paillerets, Nicolas Janin

Published in: Acta Neuropathologica | Issue 6/2015

Excerpt

The BRCA1-associated Protein 1 (BAP1) gene encodes a ubiquitin hydrolase that plays a role in several key cellular processes, including transcriptional regulation, growth, DNA damage response, and chromatin dynamics [1]. Heterozygous germline BAP1 mutations were initially associated with a higher risk of mesothelioma and uveal melanoma, as well as multiple atypical cutaneous melanocytic tumors. However, recent reports have extended their clinical phenotype to others tumors such as clear cell renal cancer, lung adenocarcinoma, meningioma, paraganglioma, and multiple basal cell carcinomas [1, 4]. …

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de la Fouchardiere A, Cabaret O, Savin L, Combemale P, Schvartz H, Penet C, Bonadona V et al (2014) Germline BAP1 mutations predispose also to multiple basal cell carcinomas. Clin Genet, doi :10.1111/cge.12472

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Title: Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome
Authors: Arnaud de la Fouchardière
Odile Cabaret
Justine Pètre
Selda Aydin
Alice Leroy
Patrick de Potter
Daniel Pissaloux
Véronique Haddad
Brigitte Bressac-de Paillerets
Nicolas Janin
Publication date: 01-06-2015
Publisher: Springer Berlin Heidelberg
Published in: Acta Neuropathologica / Issue 6/2015
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-015-1423-2

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Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome

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