Article
A population-based analysis of germline BAP1 mutations in melanoma.
Human molecular genetics - 15 Feb 2017
O'Shea Sally J, Robles-Espinoza Carla Daniela, McLellan Lauren, Harrigan Jeanine, Jacq Xavier, Hewinson James, Iyer Vivek, Merchant Will, Elliott Faye, Harland Mark, Bishop D Timothy, Newton-Bishop Julia A, Adams David J
Abstract excerpt
Germline mutation of the BRCA1 associated protein-1 (BAP1) gene has been linked to uveal melanoma, mesothelioma, meningioma, renal cell carcinoma and basal cell carcinoma. Germline variants have also been found in familial cutaneous melanoma pedigrees, but their contribution to sporadic melanoma has not been fully assessed. We sequenced BAP1 in 1,977 melanoma cases and 754 controls and used deubiquitinase assays,...
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