A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

Inactivating germ line BRCA1-associated protein-1 (BAP1) mutations have recently been reported in families with uveal or cutaneous malignant melanoma (UMM, CMM), mesothelioma, and meningioma. Although apparently predisposing to a wide range of tumors, the exact tumor spectrum associated with germ li...

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Veröffentlicht in:Pigment Cell Melanoma Res
Hauptverfasser: Wadt, Karin, Choi, Jiyeon, Chung, Joon-Yong, Kiilgaard, Jens, Heegaard, Steffen, Drzewiecki, Krzysztof T., Trent, Jeffrey M., Hewitt, Stephen M., Hayward, Nicholas K., Gerdes, Anne-Marie, Brown, Kevin M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2012
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7453745/
https://ncbi.nlm.nih.gov/pubmed/22889334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pcmr.12006
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