SciELO - Scientific Electronic Library Online

vol.69 número1Rastreo del cáncer colorrectal: Conocimiento y actitud de la poblaciónProtocolo para ablación de remanentes tiroideos luego de TSH recombinante en el cáncer diferenciado de tiroides índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados




  • No hay articulos citadosCitado por SciELO

Links relacionados

  • No hay articulos similaresSimilares en SciELO


Medicina (Buenos Aires)

versión impresa ISSN 0025-7680versión On-line ISSN 1669-9106


VALVA, Pamela et al. Germline TP53 mutations and single nucleotide polymorphisms in children. Medicina (B. Aires) [online]. 2009, vol.69, n.1, pp.143-147. ISSN 0025-7680.

Mutations in the gene TP53, which codifies the tumor suppressor protein p53, are found in about 50% of tumors. These mutations can occur not only at somatic level, but also in germline. Pediatric cancer patients, mostly with additional family history of malignancy, should be considered as potential TP53 germline mutation carriers. Germline TP53 mutations and polymorphisms have been widely studied to determine their relation with different tumors' pathogenesis. Our aim was to analyze the occurrence frequency of germline TP53 mutations and polymorphisms and to relate these to tumor development in a pediatric series. Peripheral blood mononuclear cell samples from 26 children with solid tumors [PST] and 21 pediatric healthy donors [HD] were analyzed for germline mutations and polymorphisms in TP53 gene spanning from exon 5 to 8 including introns 5 and 7. These PCR amplified fragments were sequenced to determine variations. A heterozygous mutation at codon 245 was found in 1/26 PST and 0/21 HD. Comparative polymorphisms distribution, at position 14181 and 14201(intron 7), between HD and PST revealed a trend of association (p= 0.07) with cancer risk. HD group disclosed a similar polymorphism distribution as published data for Caucasian and Central/South American populations. This is the first study about TP53 variant frequency and distribution in healthy individuals and cancer patients in Argentina.

Palabras clave : TP53; Germline; Pediatric tumor; Single nucleotide polymorphism; Genotype frequency.

        · resumen en Español     · texto en Inglés     · Inglés ( pdf )


Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons