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CDKN2A-mutation hos en familie med arveligt malignt melanom

Malene Djursby1, Karin Wadt1, Henrik Lorentzen2, Åke Borg3, Anne-Marie Gerdes1 & Lotte Krogh4 1) Klinisk Genetisk Afdeling, Rigshospitalet 2) Dermato-venerologisk Afdeling S, Aarhus Universitetshospital 3) Onkologisk Afdeling, Lunds Universitet 4) Klinisk Genetisk Afdeling, Odense Universitetshospital Ugeskr Læger 2014;176:V10130587
Ugeskr Læger 2014;176:V10130587
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CDKN2A-mutation in a family with hereditary malignant melanoma
Malignant melanoma (MM) is a frequent form of cancer with increasing incidence. 6-10% of patients with MM report a family history of MM, and in most populations 2% of unselected cases of MM carry a CDKN2A mutation. We present a family with 24 cases of MM in nine persons from several generations, caused by a previously undescribed germ-line intronic mutation in CDKN2A. Through genetic counselling and genetic testing
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