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Article

Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations.

JAMA ophthalmology - 1 Aug 2015

Gupta Mrinali P, Lane Anne Marie, DeAngelis Margaret M, Mayne Katie, Crabtree Margaux, Gragoudas Evangelos S, Kim Ivana K

Abstract excerpt

IMPORTANCE: Somatic mutations in BAP1 (BRCA1-associated protein 1 gene) are frequently identified in uveal melanoma. To date, the role of germline BAP1 mutations in uveal melanoma has not been characterized. OBJECTIVE: To characterize the clinical phenotype of uveal melanoma in patients with germline BAP1 mutations. DESIGN, SETTING, AND PARTICIPANTS: Retrospective cohort study at an academic ophthalmology...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25974357
DOI: 10.1001/jamaophthalmol.2015.1119

Genes

BAP1
BRCA1

Provenance

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