title: Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds.
abstract: CDKN2 has been implicated as a melanoma susceptibility gene in some kindreds with a family history of this disease. Mutation analysis of CDKN2 in 17 familial melanoma Australian kindreds revealed a paucity of exon mutations and none of the previously described disease-related mutations. One novel germline mutation was found in exon one, Arg24Pro, which segregates with melanoma in 1/17 kindreds. Two previously described polymorphisms, Ala148Thr and a base change at nucleotide 540 were detected and one novel polymorphism in the untranslated region of exon 3 (nucleotide 580) was also found. Together with other recent reports, these findings provide support for CDKN2 as a susceptibility locus for familial melanoma but suggest that other loci are involved in some hereditary melanoma kindreds.
authors.affiliation: Department of Medical Oncology, University of Sydney, Westmead Hospital, NSW, Australia.
authors.forename: E A
authors.initials: EA
authors.lastname: Holland
authors.forename: S C
authors.initials: SC
authors.lastname: Beaton
authors.forename: T M
authors.initials: TM
authors.lastname: Becker
authors.forename: O M
authors.initials: OM
authors.lastname: Grulet
authors.forename: B A
authors.initials: BA
authors.lastname: Peters
authors.forename: H
authors.initials: H
authors.lastname: Rizos
authors.forename: R F
authors.initials: RF
authors.lastname: Kefford
authors.forename: G J
authors.initials: GJ
authors.lastname: Mann
mesh_terms: D001315:Australia; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16; D017931:DNA Primers; D005091:Exons; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation
chemical_list: D002352:Carrier Proteins; D019941:Cyclin-Dependent Kinase Inhibitor p16; D017931:DNA Primers