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

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Footnotes

  • Twitter @vaish_1, @haverdal76, @VivianKahl, @_KellyBrooks, @antoniagage

  • Contributors VN designed the research study, prepared samples, conducted experiments, analysed data and prepared the manuscript. JMP recruited patients, consented patients, collected samples, acquired data and prepared the manuscript. PAJ designed the research study, analysed data and prepared the manuscript. HRH acquired data and prepared the manuscript. SKW, WG and LAM recruited patients and prepared the manuscript. VFSK, RSV and HAP conducted experiments, analysed data and prepared the manuscript. KMB prepared samples, supervised the project and prepared the manuscript. ALP designed the research study, supervised the project and prepared the manuscript. NKH provided funding for the study, designed the research study, supervised the project and prepared the manuscript.

  • Funding All authors reviewed the manuscript and provided feedback. The study and NKH is funded by the National Health and Medical Research Council (NHMRC; 1093017, 1117663), ALP is funded by Highland Island Enterprise (HMS 9353763), KMB is funded by Cure Cancer Australia. VN is supported by an Australian Government Research Training Programme Scholarship.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Ethics approval Participants were consented for this study under ethics approval granted by the QIMR Berghofer Medical Research Institute Human Research Ethics Committee (HREC; reference number: HREC/14/QPAH/495).

  • Provenance and peer review Not commissioned; externally peer reviewed.