title: Novel CDKN2A mutations detected in western Swedish families with hereditary malignant melanoma.
abstract: We have examined alterations in the cyclin-dependent kinase inhibitor 2A (CDKN2A), a major melanoma predisposing gene, in a western-Swedish hereditary melanoma population comprising 107 patients from 68 families. Using sequence analysis and multiplex ligation-dependent probe amplification, we found a novel mutation (Asp108 Tyr), segregating with the disease in three families. This mutation has previously been detected as a somatic mutation in other cancers. We found a previously described Swedish founder mutation (ins113Arg) in one family and a large duplication encompassing the CDKN2A gene locus in another family. Moreover, a debated polymorphism (Ala148Thr) was found in nine families, in which the polymorphism did not segregate with the disease.
authors.affiliation: Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.
authors.forename: Anna
authors.initials: A
authors.lastname: Erlandson
authors.forename: Frida
authors.initials: F
authors.lastname: Appelqvist
authors.forename: Ann-Marie
authors.initials: AM
authors.lastname: Wennberg
authors.forename: Joanna
authors.initials: J
authors.lastname: Holm
authors.forename: Charlotta
authors.initials: C
authors.lastname: Enerbäck
mesh_terms: D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D005192:Family Health; D005260:Female; D018703:Founder Effect; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012878:Skin Neoplasms / Q000235:genetics*; D013548:Sweden
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16