BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma.

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Abstract

Germline mutations of the BRCA1-associated protein-1 gene (BAP1) predispose carriers to uveal melanoma. We report the population-based frequency of germline pathogenic variants of BAP1 in Finnish patients with uveal melanoma who live in a high-risk region for this cancer.

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Journal

Journal ID (iso-abbrev): Ophthalmology

Title: Ophthalmology

Publisher: Elsevier BV

ISSN (Electronic): 1549-4713

ISSN (Print): 0161-6420

Publication date (Electronic): May 2016

Volume: 123

Issue: 5

Affiliations

[1 ] Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Institute of Genetics, Helsinki, Finland. Electronic address: joni.turunen@helsinki.fi.

[2 ] Folkhälsan Institute of Genetics, Helsinki, Finland.

[3 ] Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

[4 ] Department of Medical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

[5 ] Folkhälsan Institute of Genetics, Helsinki, Finland; Neuroscience Center and Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

Article

Publisher Item ID: S0161-6420(16)00027-0

DOI: 10.1016/j.ophtha.2016.01.008

PubMed ID: 26876698

SO-VID: 15e7656f-8163-40a2-962a-861901b6f03a

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