title: Mutational analysis of the CDKN2 gene in metastases from patients with cutaneous malignant melanoma.
abstract: We analysed 26 metastases from 25 patients with sporadic cutaneous malignant melanoma for alterations in the CDKN2 gene by a combined polymerase chain reaction/single-strand conformation polymorphism (PCR/SSCP)/nucleotide sequencing approach. Eleven alterations (one in exon 1, five in exon 2 and five in the 3' non-coding sequence of the exon 3 region) were concordantly and independently detected by both SSCP and nucleotide sequence analysis. Two of the exon 2 changes and the five changes in the non-coding exon 3 region are likely to represent natural polymorphism. Four (15%) of 26 metastases thus had CDKN2 mutations and belonged to 3 (12%) of 25 patients. Semi-quantitative PCR furthermore revealed no sign of homozygous deletions of the CDKN2 exon 2 region. The results support an involvement of the CDKN2 product in the development of a subgroup of sporadic melanomas and encourage the search for alterations in additional genes of the 9p21 region.
authors.affiliation: Department of Oncology, Radiumhemmet, Karolinska Hospital, Stockholm, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Platz
authors.forename: U
authors.initials: U
authors.lastname: Ringborg
authors.forename: B
authors.initials: B
authors.lastname: Lagerlöf
authors.forename: E
authors.initials: E
authors.lastname: Lundqvist
authors.forename: P
authors.initials: P
authors.lastname: Sevigny
authors.forename: M
authors.initials: M
authors.lastname: Inganäs
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008969:Molecular Sequence Data; D009362:Neoplasm Metastasis; D018807:Polymorphism, Single-Stranded Conformational; D047428:Protein Kinase Inhibitors; D017384:Sequence Deletion; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D019941:Cyclin-Dependent Kinase Inhibitor p16; D017931:DNA Primers; D004273:DNA, Neoplasm; D047428:Protein Kinase Inhibitors