Molecular characterization of melanoma cases in denmark suspected of genetic predisposition

Karin A W Wadt, Lauren G Aoude, Lotte Krogh, Lone Sunde, Anders Bojesen, Karen Grønskov, Nine Wartacz, Jakob Ek, Morten Tolstrup Andersen, Mette Klarskov Andersen, Åke Borg, Steffen Heegaard, Jens Folke Kiilgaard, Thomas V O Hansen, Kerenaftali Klein, Göran Jönsson, Krzysztof T Drzewiecki, Morten Dunø, Nicholas K Hayward, Anne-Marie Gerdes

20 Citationer (Scopus)


Both environmental and host factors influence risk of cutaneous melanoma (CM), and worldwide, the incidence varies depending on constitutional determinants of skin type and pigmentation, latitude, and patterns of sun exposure. We performed genetic analysis of CDKN2A, CDK4, BAP1, MC1R, and MITFp.E318K in Danish high-risk melanoma cases and found CDKN2A germline mutations in 11.3% of CM families with three or more affected individuals, including four previously undescribed mutations. Rare mutations were also seen in CDK4 and BAP1, while MC1R variants were common, occurring at more than twice the frequency compared to Danish controls. The MITF p.E318K variant similarly occurred at an approximately three-fold higher frequency in melanoma cases than controls. To conclude, we propose that mutation screening of CDKN2A and CDK4 in Denmark should predominantly be performed in families with at least 3 cases of CM. In addition, we recommend that testing of BAP1 should not be conducted routinely in CM families but should be reserved for families with CM and uveal melanoma, or mesothelioma.

TidsskriftP L o S One
Udgave nummer3
Sider (fra-til)e0122662
StatusUdgivet - 2015


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