Ontology highlight
ABSTRACT:
SUBMITTER: Wadt KA
PROVIDER: S-EPMC4372390 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Wadt Karin A W KA Aoude Lauren G LG Krogh Lotte L Sunde Lone L Bojesen Anders A Grønskov Karen K Wartacz Nine N Ek Jakob J Tolstrup-Andersen Morten M Klarskov-Andersen Mette M Borg Åke Å Heegaard Steffen S Kiilgaard Jens F JF Hansen Thomas V O TV Klein Kerenaftali K Jönsson Göran G Drzewiecki Krzysztof T KT Dunø Morten M Hayward Nicholas K NK Gerdes Anne-Marie AM
PloS one 20150324 3
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 mutation ...[more]