Article
CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015-2020: implications for novel national recommendations.
Acta oncologica (Stockholm, Sweden) - 1 Jul 2021
Pissa Maria, Helkkula Teo, Appelqvist Frida, Silander Gustav, Borg Åke, Pettersson Jenny, Lapins Jan, Nielsen Kari, Höiom Veronica, Helgadottir Hildur
Abstract excerpt
Background: Inherited pathogenic variants (PVs) in the CDKN2A gene are among the strongest known risk factors for cutaneous melanoma. Carriers are at high risks to develop multiple primary melanomas and other cancers, in particular pancreatic cancer. In this study, the CDKN2A testing, carried out in Sweden in the years 2015-2020, was evaluated.Materials and methods: Included families had (1) three or more cases...
Topics
- Cyclin-Dependent Kinase Inhibitor p16
- Genes, p16
- Genetic Predisposition to Disease
- Genetic Testing
- Germ-Line Mutation
- Humans
- Melanoma
- Skin Neoplasms
- Sweden