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Article

Hereditary uveal melanoma: a report of a germline mutation in BAP1.

Genes, chromosomes & cancer - 1 Apr 2013

Höiom Veronica, Edsgärd Daniel, Helgadottir Hildur, Eriksson Hanna, All-Ericsson Charlotta, Tuominen Rainer, Ivanova Ivayla, Lundeberg Joakim, Emanuelsson Olof, Hansson Johan

Abstract excerpt

Melanoma of the eye is a rare and distinct subtype of melanoma, which only rarely are familial. However, cases of uveal melanoma (UM) have been found in families with mixed cancer syndromes. Here, we describe a comprehensive search for inherited genetic variation in a family with multiple cases of UM but no aggregation of other cancer diagnoses. The proband is a woman diagnosed with UM at 16 years who within 6...

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Source

Identifiers

PMID: 23341325
DOI: 10.1002/gcc.22035

Genes

BAP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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