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Article

Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families.

PloS one - 1 Jan 2012

Njauw Ching-Ni Jenny, Kim Ivana, Piris Adriano, Gabree Michele, Taylor Michael, Lane Anne Marie, DeAngelis Margaret M, Gragoudas Evangelos, Duncan Lyn M, Tsao Hensin

Abstract excerpt

BACKGROUND: BAP1 has been shown to be a target of both somatic alteration in high-risk ocular melanomas (OM) and germline inactivation in a few individuals from cancer-prone families. These findings suggest that constitutional BAP1 changes may predispose individuals to metastatic OM and that fami...

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Source

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Identifiers

PMID: 22545102
DOI: 10.1371/journal.pone.0035295
PMCID: PMC3335872

Genes

BAP1
BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22545102-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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