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Molecular character...
Molecular characterization of melanoma cases in denmark suspected of genetic predisposition.
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Wadt, Karin A W (author)
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Aoude, Lauren G (author)
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Krogh, Lotte (author)
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Sunde, Lone (author)
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Bojesen, Anders (author)
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Grønskov, Karen (author)
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Wartacz, Nine (author)
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Ek, Jakob (author)
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Tolstrup-Andersen, Morten (author)
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Klarskov-Andersen, Mette (author)
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- Borg, Åke (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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Heegaard, Steffen (author)
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Kiilgaard, Jens F (author)
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Hansen, Thomas V O (author)
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Klein, Kerenaftali (author)
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- Jönsson, Göran B (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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Drzewiecki, Krzysztof T (author)
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Dunø, Morten (author)
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Hayward, Nicholas K (author)
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Gerdes, Anne-Marie (author)
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(creator_code:org_t)
- 2015-03-24
- 2015
- English.
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In: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 10:3
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Wadt, Karin A W
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Aoude, Lauren G
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Krogh, Lotte
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Sunde, Lone
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Bojesen, Anders
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Grønskov, Karen
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show more...
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Wartacz, Nine
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Ek, Jakob
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Tolstrup-Anderse ...
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Klarskov-Anderse ...
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Borg, Åke
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Heegaard, Steffe ...
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Kiilgaard, Jens ...
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Hansen, Thomas V ...
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Klein, Kerenafta ...
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Jönsson, Göran B
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Drzewiecki, Krzy ...
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Dunø, Morten
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Hayward, Nichola ...
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Gerdes, Anne-Mar ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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PLoS ONE
- By the university
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Lund University