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Article

Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma.

Cancer genetics - 1 May 2013

Cheung Mitchell, Talarchek Jacqueline, Schindeler Karen, Saraiva Eduardo, Penney Lynette S, Ludman Mark, Testa Joseph R

Abstract excerpt

We describe a new family with a novel germline BAP1 nonsense mutation, c.723T>G, which leads to a predicted truncated protein, p.Y241*, or nonsense-mediated decay of the BAP1 mRNA. The proband had uveal melanoma (UM), and his paternal family has a remarkable history of multiple cancers. The proband's father had both pleural malignant mesothelioma (MM) and cutaneous melanoma (CM); a paternal uncle had lung cancer,...

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Source

Identifiers

PMID: 23849051
DOI: 10.1016/j.cancergen.2013.05.018

Genes

BAP1

Variants

Provenance

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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