title: Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. Online.
abstract: Germ-line mutations in the p16/CDKN2 gene are known to predispose to melanoma. This gene belongs to a family of cyclin-dependent kinase inhibitors and blocks G1-S progression. The occurrence of p16/CDKN2 germline mutations in 12 Icelandic melanoma kindreds (kindreds with two or more cases of melanoma or melanoma, pancreas and/or glioma cases) was examined. No germ-line mutation was found, however five mutations not previously discribed in solid tumours were identified, Pro48Leu, Ala57Val, Gly89Asp, Leu117Met, Tyr129Stop.
authors.affiliation: Molecular and Cell Biology Reseach Laboratory, Reykjavik, Iceland. solveig@krabb.is
authors.forename: S
authors.initials: S
authors.lastname: Gretarsdóttir
authors.forename: G H
authors.initials: GH
authors.lastname: Olafsdóttir
authors.forename: A
authors.initials: A
authors.lastname: Borg
mesh_terms: D002277:Carcinoma / Q000235:genetics*; D019942:Genes, p16 / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D005910:Glioma / Q000235:genetics*; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000235:genetics*