title: [CDKN2A-mutation in a family with hereditary malignant melanoma].
abstract: 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. tvWe 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 high-risk persons in the family are located and offered regular screening for MM.
authors.forename: Malene
authors.initials: M
authors.lastname: Djursby
authors.affiliation: Klinisk Genetisk Afdeling, Rigshospitalet, Blegdamsvej 9, 2100 København Ø. E-mail: karin.wadt@regionh.dk.
authors.forename: Karin
authors.initials: K
authors.lastname: Wadt
authors.forename: Henrik
authors.initials: H
authors.lastname: Lorentzen
authors.forename: Ake
authors.initials: A
authors.lastname: Borg
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Gerdes
authors.forename: Lotte
authors.initials: L
authors.lastname: Krogh
mesh_terms: D019941:Cyclin-Dependent Kinase Inhibitor p16; D050763:Cyclin-Dependent Kinase Inhibitor p18 / Q000235:genetics*; D005190:Family; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: C000614131:CDKN2A protein, human; D019941:Cyclin-Dependent Kinase Inhibitor p16; D050763:Cyclin-Dependent Kinase Inhibitor p18