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BAP1 germline mutation in two first grade family members with uveal melanoma

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Maerker, David A. ; Zeschnigk, M. ; Nelles, J. ; Lohmann, D. R. ; Worm, K. ; Bosserhoff, Anja-Katrin ; Krupar, Rosemarie ; Jägle, Herbert
License: Allianz- bzw. Nationallizenz
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Date of publication of this fulltext: 07 Sep 2017 09:42


Background: Uveal melanoma (UM) is the most common primary cancer of the eye in adults. About half of the patients are at risk of developing metastatic disease resulting in a poor clinical prognosis. Metastatic progression is strongly associated with loss of one chromosome 3 in the tumour (monosomy 3). The tumour suppressor gene BAP1 was found to be recurrently mutated in UM with monosomy 3. ...


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