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

URN to cite this document:: urn:nbn:de:bvb:355-epub-361639
DOI to cite this document:: 10.5283/epub.36163

Maerker, David A. ; Zeschnigk, M. ; Nelles, J. ; Lohmann, D. R. ; Worm, K. ; Bosserhoff, Anja-Katrin ; Krupar, Rosemarie

; Jägle, Herbert

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Date of publication of this fulltext: 07 Sep 2017 09:42

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Abstract

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. ...