title: Mutation analysis of genes that control the G1/S cell cycle in melanoma: TP53, CDKN1A, CDKN2A, and CDKN2B.
abstract: BACKGROUND
  The role of genes involved in the control of progression from the G1 to the S phase of the cell cycle in melanoma tumors in not fully known. The aim of our study was to analyse mutations in TP53, CDKN1A, CDKN2A, and CDKN2B genes in melanoma tumors and melanoma cell lines
  
  
  METHODS
  We analysed 39 primary and metastatic melanomas and 9 melanoma cell lines by single-stranded conformational polymorphism (SSCP).
  
  
  RESULTS
  The single-stranded technique showed heterozygous defects in the TP53 gene in 8 of 39 (20.5%) melanoma tumors: three new single point mutations in intronic sequences (introns 1 and 2) and exon 10, and three new single nucleotide polymorphisms located in introns 1 and 2 (C to T transition at position 11701 in intron 1; C insertion at position 11818 in intron 2; and C insertion at position 11875 in intron 2). One melanoma tumor exhibited two heterozygous alterations in the CDKN2A exon 1 one of which was novel (stop codon, and missense mutation). No defects were found in the remaining genes.
  
  
  CONCLUSIONS
  These results suggest that these genes are involved in melanoma tumorigenesis, although they may be not the major targets. Other suppressor genes that may be informative of the mechanism of tumorigenesis in skin melanomas should be studied.
authors.affiliation: Servicio de Análisis Clínicos e Inmunología, Hospital Universitario Virgen de las Nieves, Avenida Fuerzas Armadas No 2, 18014 Granada, Spain. jlsoto@umh.es
authors.forename: José Luis
authors.initials: JL
authors.lastname: Soto
authors.forename: Carmen M
authors.initials: CM
authors.lastname: Cabrera
authors.forename: Salvio
authors.initials: S
authors.lastname: Serrano
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: López-Nevot
mesh_terms: D001483:Base Sequence; D002453:Cell Cycle; D045744:Cell Line, Tumor; D018388:Codon, Terminator; D050762:Cyclin-Dependent Kinase Inhibitor p15 / Q000096:biosynthesis / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000096:biosynthesis / Q000235:genetics*; D050759:Cyclin-Dependent Kinase Inhibitor p21 / Q000096:biosynthesis / Q000235:genetics*; D004252:DNA Mutational Analysis; D016193:G1 Phase; D016158:Genes, p53 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D016196:S Phase; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D016159:Tumor Suppressor Protein p53 / Q000096:biosynthesis
chemical_list: D018388:Codon, Terminator; D050762:Cyclin-Dependent Kinase Inhibitor p15; D019941:Cyclin-Dependent Kinase Inhibitor p16; D050759:Cyclin-Dependent Kinase Inhibitor p21; D016159:Tumor Suppressor Protein p53