Loss-of-function variants in POT1 predispose to uveal melanoma

J Med Genet. 2021 Apr;58(4):234-236. doi: 10.1136/jmedgenet-2020-107098. Epub 2020 Sep 9.

¹ Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
² Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.
³ Queensland Ocular Oncology Services, The Terrace Eye Centre, Brisbane, Queensland, Australia.
⁴ Children's Medical Research Institute, University of Sydney, Westmead, New South Wales, Australia.
⁵ Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.
⁶ Division of Biomedical Sciences, University of the Highlands and Islands, Inverness, Scotland, UK.
⁷ Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia nicholas.hayward@qimrberghofer.edu.au.

No abstract available

Keywords: eye diseases; genetic predisposition to disease; genetics; germ-line mutation; human genetics.

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