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Open Access
Peer-reviewed
Research Article
Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants
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Karin A. W. Wadt ,
Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Visualization, Writing – original draft, Writing – review & editing
* E-mail: Karin.wadt@regionh.dk
Affiliations Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
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Katja Harbst,
Roles Data curation, Formal analysis, Methodology, Validation, Writing – review & editing
Affiliation Division of Oncology and Pathology, Department of Clinical Sciences, Lund University Cancer Center, Lund University, Lund, Sweden
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Mette M. B. Sjøl,
Roles Data curation, Investigation, Validation
Affiliation Department of Ophthalmology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
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Frida Rosengren,
Roles Formal analysis, Writing – review & editing
Affiliation Division of Oncology and Pathology, Department of Clinical Sciences, Lund University Cancer Center, Lund University, Lund, Sweden
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Christina Westmose Yde,
Roles Data curation, Formal analysis, Methodology, Writing – review & editing
Affiliation Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
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Kristoffer Staal Rohrberg,
Roles Investigation, Supervision, Writing – review & editing
Affiliations Department of Oncology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark, Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
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Marlene Richter Jensen,
Roles Formal analysis, Visualization, Writing – review & editing
Affiliation Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
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Steffen Heegaard,
Roles Data curation, Methodology, Writing – review & editing
Affiliations Department of Ophthalmology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark, Department of Pathology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
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Jens Folke Kiilgaard,
Roles Conceptualization, Supervision, Writing – review & editing
Affiliation Department of Ophthalmology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
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Anne-Marie Gerdes,
Roles Conceptualization, Supervision, Writing – review & editing
Affiliations Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
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Nicholas Hayward ,
Contributed equally to this work with: Nicholas Hayward, Göran B. Jönsson
Roles Conceptualization, Investigation, Supervision, Writing – review & editing
Affiliation QIMR Berghofer Medical Research Institute, Herston, QLD, Australia
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Göran B. Jönsson
Contributed equally to this work with: Nicholas Hayward, Göran B. Jönsson
Roles Conceptualization, Formal analysis, Funding acquisition, Supervision, Writing – review & editing
Affiliation Division of Oncology and Pathology, Department of Clinical Sciences, Lund University Cancer Center, Lund University, Lund, Sweden
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Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants
- Karin A. W. Wadt,
- Katja Harbst,
- Mette M. B. Sjøl,
- Frida Rosengren,
- Christina Westmose Yde,
- Kristoffer Staal Rohrberg,
- Marlene Richter Jensen,
- Steffen Heegaard,
- Jens Folke Kiilgaard,
- Anne-Marie Gerdes
- Published: October 8, 2024
- https://doi.org/10.1371/journal.pone.0306386