Soto, José LuisCabrera, Carmen MSerrano, SalvioLópez-Nevot, Miguel Ángel2012-12-042012-12-042005-04-08Soto JL, Cabrera CM, Serrano S, López-Nevot MA. Mutation analysis of genes that control the G1/S cell cycle in melanoma: TP53, CDKN1A, CDKN2A, and CDKN2B. BMC Cancer. 2005 Apr 8;5:36.http://hdl.handle.net/10668/690Journal Article; Research Support, Non-U.S. Gov't;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. CONCLUSION 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.enCyclin-Dependent Kinase Inhibitor p15Cyclin-Dependent Kinase Inhibitor p16Cyclin-Dependent Kinase Inhibitor p21Tumor Suppressor Protein p53Inhibidor p15 de las Quinasas Dependientes de la CiclinaInhibidor p16 de la Quinasa Dependiente de CiclinaInhibidor p21 de las Quinasas Dependientes de la CiclinaAnálisis Mutacional de ADNFase G1Genes p53HeterocigotoHumanosIntronesMelanomaDatos de Secuencia MolecularMutación MissenseMutación PuntualPolimorfismo de Nucleótido SimplePolimorfismo Conformacional Retorcido-SimpleFase SNeoplasias CutáneasProteína p53 Supresora de TumorCodon, TerminatorMedical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Cell CycleMedical Subject Headings::Anatomy::Cells::Cells, Cultured::Cell Line::Cell Line, TumorMedical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Messenger::Codon::Codon, TerminatorMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Cyclin-Dependent Kinase Inhibitor Proteins::Cyclin-Dependent Kinase Inhibitor p15Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Cyclin-Dependent Kinase Inhibitor Proteins::Cyclin-Dependent Kinase Inhibitor p16Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Cyclin-Dependent Kinase Inhibitor Proteins::Cyclin-Dependent Kinase Inhibitor p21Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational AnalysisMedical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Cell Cycle::Interphase::G1 PhaseMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Genes, Neoplasm::Genes, Tumor Suppressor::Genes, p53Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::DNA, Intergenic::IntronsMedical Subject Headings::Diseases::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::MelanomaMedical Subject Headings::Information Science::Information Science::Information Services::Documentation::Molecular Sequence DataMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation::Mutation, MissenseMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation::Point MutationMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single NucleotideMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single-Stranded ConformationalMedical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::DNA Replication::S PhaseMedical Subject Headings::Diseases::Neoplasms::Neoplasms by Site::Skin NeoplasmsMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::DNA-Binding Proteins::Tumor Suppressor Protein p53Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Base SequenceMedical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Cell CycleMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Heterozygoteresearch article15819981open access10.1186/1471-2407-5-361471-2407PMC1097717