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BAP1 genetic testing among melanoma and cancer-prone families in Sweden

BAP1 genetic testing among melanoma and cancer-prone families in Sweden ACTA ONCOLOGICA https://doi.org/10.1080/0284186X.2023.2216338 LETTER TO THE EDITOR a,b a,b c,d e f Hildur Helgadottir , Karina Schultz , Jan Lapins , Ismini Vassilaki , Charlotta All-Eriksson and a,b Veronica Hoiom a b Department of Oncology and Pathology, Karolinska Institutet, Stockholm, Sweden; Theme Cancer, Karolinska University Hospital, c d Stockholm, Sweden; Department of Dermatology, Karolinska University Hospital, Stockholm, Sweden; Dermatology and Venereology Unit, Department of Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Pathology, Karolinska University Hospital, Stockholm, Sweden; Department of Ophthalmology, Sahlgrenska University Hospital, Gothenburg, Sweden ARTICLE HISTORY Received 20 March 2023; Accepted 16 May 2023 Background Material and methods The BRCA1-associated protein-1 (BAP1) gene has in the Patients and families recent years been identified as a critical driver gene in the After the identification of the first family in Sweden with a pathogenesis of many tumors [1,2]. The BAP1 gene is located BAP1 PV in 2012, germline sequencing of the BAP1 gene has on chromosome 3 (3p21.31-p21.2), where its 17 exons tran- been offered to families presenting with BAP1 core tumors. scribe into the 729 amino acids long BAP1 protein [3]. BAP1 Essentially, this has been performed in families with CM in has been categorized as a tumor suppressor, http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Oncologica Taylor & Francis

BAP1 genetic testing among melanoma and cancer-prone families in Sweden

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References (32)

Publisher
Taylor & Francis
Copyright
© 2023 Acta Oncologica Foundation
ISSN
1651-226X
eISSN
0284-186X
DOI
10.1080/0284186X.2023.2216338
Publisher site
See Article on Publisher Site

Abstract

ACTA ONCOLOGICA https://doi.org/10.1080/0284186X.2023.2216338 LETTER TO THE EDITOR a,b a,b c,d e f Hildur Helgadottir , Karina Schultz , Jan Lapins , Ismini Vassilaki , Charlotta All-Eriksson and a,b Veronica Hoiom a b Department of Oncology and Pathology, Karolinska Institutet, Stockholm, Sweden; Theme Cancer, Karolinska University Hospital, c d Stockholm, Sweden; Department of Dermatology, Karolinska University Hospital, Stockholm, Sweden; Dermatology and Venereology Unit, Department of Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Pathology, Karolinska University Hospital, Stockholm, Sweden; Department of Ophthalmology, Sahlgrenska University Hospital, Gothenburg, Sweden ARTICLE HISTORY Received 20 March 2023; Accepted 16 May 2023 Background Material and methods The BRCA1-associated protein-1 (BAP1) gene has in the Patients and families recent years been identified as a critical driver gene in the After the identification of the first family in Sweden with a pathogenesis of many tumors [1,2]. The BAP1 gene is located BAP1 PV in 2012, germline sequencing of the BAP1 gene has on chromosome 3 (3p21.31-p21.2), where its 17 exons tran- been offered to families presenting with BAP1 core tumors. scribe into the 729 amino acids long BAP1 protein [3]. BAP1 Essentially, this has been performed in families with CM in has been categorized as a tumor suppressor,

Journal

Acta OncologicaTaylor & Francis

Published: Jun 3, 2023

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