RT Journal Article
T1 Mutation analysis of genes that control the G1/S cell cycle in melanoma: TP53, CDKN1A, CDKN2A, and CDKN2B.
A1 Soto, José Luis
A1 Cabrera, Carmen M
A1 Serrano, Salvio
A1 López-Nevot, Miguel Ángel
K1 Cyclin-Dependent Kinase Inhibitor p15
K1 Cyclin-Dependent Kinase Inhibitor p16
K1 Cyclin-Dependent Kinase Inhibitor p21
K1 Tumor Suppressor Protein p53
K1 Inhibidor p15 de las Quinasas Dependientes de la Ciclina
K1 Inhibidor p16 de la Quinasa Dependiente de Ciclina
K1 Inhibidor p21 de las Quinasas Dependientes de la Ciclina
K1 Análisis Mutacional de ADN
K1 Fase G1
K1 Genes p53
K1 Heterocigoto
K1 Humanos
K1 Intrones
K1 Melanoma
K1 Datos de Secuencia Molecular
K1 Mutación Missense
K1 Mutación Puntual
K1 Polimorfismo de Nucleótido Simple
K1 Polimorfismo Conformacional Retorcido-Simple
K1 Fase S
K1 Neoplasias Cutáneas
K1 Proteína p53 Supresora de Tumor
K1 Codon, Terminator
AB BACKGROUNDThe 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 linesMETHODSWe analysed 39 primary and metastatic melanomas and 9 melanoma cell lines by single-stranded conformational polymorphism (SSCP).RESULTSThe 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.CONCLUSIONThese 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.
PB BioMed Central
YR 2005
FD 2005-04-08
LK http://hdl.handle.net/10668/690
UL http://hdl.handle.net/10668/690
LA en
NO Soto 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.
NO Journal Article; Research Support, Non-U.S. Gov't;
DS RISalud
RD Apr 8, 2025