POT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers
POT1 PVs were rare in the studied Swedish familial melanoma cases, implying limited contribution to hereditary melanoma in this population. Nonetheless, the identification of a previously unknown likely PV further supports the need for continued genetic screening in selected cases. POT1 testing should be considered in families with multiple melanomas, early onset and spitzoid histopathology, and co-occurring with other syndromic tumors.
Authors
- Karina Schultz (ORCID: https://orcid.org/0000-0003-4086-1289)
- Sofia Obolenski (ORCID: https://orcid.org/0000-0002-6709-7332)
- Ismini Vassilaki
- Jan Lapins (ORCID: https://orcid.org/0000-0002-0882-8959)
- Hildur Helgadóttir (ORCID: https://orcid.org/0000-0002-0735-4771)
- Muyi Yang (ORCID: https://orcid.org/0000-0003-4009-2002)
- Michael R. Sargen (ORCID: https://orcid.org/0000-0003-1039-2522)
- Francesca Portelli (ORCID: https://orcid.org/0000-0002-3325-2357)
- Veronica Höiom (ORCID: https://orcid.org/0000-0002-3957-5667)
- David J. Adams (ORCID: https://orcid.org/0000-0001-9490-0306)
- Konstantinos Papadakis
- Hedvig Olsson Sterky
Institutions
- National Institutes of Health (US)
- Karolinska University Hospital (SE)
- Leiden University Medical Center (NL)
- Wellcome Sanger Institute (GB)
- Karolinska Institutet (SE)
- National Cancer Institute (US)
Publication Details
- Journal
- Acta Oncologica
- Published
- 2025-08-25
- DOI
- https://doi.org/10.2340/1651-226x.2025.44048
- Primary Topic
- Cutaneous Melanoma Detection and Management
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Australian Government
- Cancerfonden
- National Institutes of Health
- National Cancer Institute
- Division of Cancer Epidemiology and Genetics, National Cancer Institute