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Molecular characterization of melanoma cases in denmark suspected of genetic predisposition.

Wadt, Karin A W; Aoude, Lauren G; Krogh, Lotte; Sunde, Lone; Bojesen, Anders; Grønskov, Karen; Wartacz, Nine; Ek, Jakob; Tolstrup-Andersen, Morten and Klarskov-Andersen, Mette, et al. (2015) In PLoS ONE 10(3).
Abstract
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... (More)
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. (Less)
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Public Library of Science
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  • pmid:25803691
  • wos:000353889600206
  • scopus:84925612085
ISSN
1932-6203
DOI
10.1371/journal.pone.0122662
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English
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ed9830b8-9cea-4919-bf1b-7986278fdbf5 (old id 5257721)
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http://www.ncbi.nlm.nih.gov/pubmed/25803691?dopt=Abstract
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@article{ed9830b8-9cea-4919-bf1b-7986278fdbf5,
  abstract     = {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.},
  articleno    = {e0122662},
  author       = {Wadt, Karin A W and Aoude, Lauren G and Krogh, Lotte and Sunde, Lone and Bojesen, Anders and Grønskov, Karen and Wartacz, Nine and Ek, Jakob and Tolstrup-Andersen, Morten and Klarskov-Andersen, Mette and Borg, Åke and Heegaard, Steffen and Kiilgaard, Jens F and Hansen, Thomas V O and Klein, Kerenaftali and Jönsson, Göran B and Drzewiecki, Krzysztof T and Dunø, Morten and Hayward, Nicholas K and Gerdes, Anne-Marie},
  issn         = {1932-6203},
  language     = {eng},
  number       = {3},
  publisher    = {Public Library of Science},
  series       = {PLoS ONE},
  title        = {Molecular characterization of melanoma cases in denmark suspected of genetic predisposition.},
  url          = {http://dx.doi.org/10.1371/journal.pone.0122662},
  volume       = {10},
  year         = {2015},
}