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Article

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

The British journal of ophthalmology - 1 Feb 2014

Maerker David A, Zeschnigk Michael, Nelles Jasmin, Lohmann Dietmar R, Worm Karl, Bosserhoff Anja K, Krupar Rosemarie, Jägle Herbert

Abstract excerpt

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. Familial UM is rare...

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Identifiers

PMID: 24187051
DOI: 10.1136/bjophthalmol-2013-303814

Genes

BAP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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