TY - JOUR
T1 - P53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma
AU - Epistolato, Maria Carmela
AU - Disciglio, Vittoria
AU - Livide, Gabriella
AU - Berchialla, Paola
AU - Mencarelli, Maria Antonietta
AU - Marozza, Annabella
AU - Amenduni, Mariangela
AU - Hadjistilianou, Theodora
AU - De Francesco, Sonia
AU - Acquaviva, Antonio
AU - Toti, Paolo
AU - Cetta, Francesco
AU - Ariani, Francesca
AU - De Marchi, Mario
AU - Renieri, Alessandra
AU - Giachino, Daniela
PY - 2011/9
Y1 - 2011/9
N2 - The tumor suppressor p53 and its negative regulator MDM2 have crucial roles in a variety of cellular functions such as the control of the cell cycle, senescence, genome stability and apoptosis, and are frequently deregulated in carcinogenesis. Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li-Fraumeni syndrome. Their possible role in retinoblastoma has recently been addressed by Castéra et al, who however only studied the MDM2 309SNP. Here, for the first time, we analyzed both single nucleotide polymorphisms (SNPs) in a case-control study of 111 Italian hereditary retinoblastoma patients. We found a significant association of the p53 Pro/Pro genotype with the disease (odds ratio=3.58, P=0.002). The MDM2 309SNP showed a weak negative association of allele G that deserves further investigation. These findings further support the hypothesis that genetic variability of the p53 pathway contributes to the individual susceptibility to retinoblastoma, as shown for Li-Fraumeni syndrome and a variety of non-hereditary cancers.
AB - The tumor suppressor p53 and its negative regulator MDM2 have crucial roles in a variety of cellular functions such as the control of the cell cycle, senescence, genome stability and apoptosis, and are frequently deregulated in carcinogenesis. Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li-Fraumeni syndrome. Their possible role in retinoblastoma has recently been addressed by Castéra et al, who however only studied the MDM2 309SNP. Here, for the first time, we analyzed both single nucleotide polymorphisms (SNPs) in a case-control study of 111 Italian hereditary retinoblastoma patients. We found a significant association of the p53 Pro/Pro genotype with the disease (odds ratio=3.58, P=0.002). The MDM2 309SNP showed a weak negative association of allele G that deserves further investigation. These findings further support the hypothesis that genetic variability of the p53 pathway contributes to the individual susceptibility to retinoblastoma, as shown for Li-Fraumeni syndrome and a variety of non-hereditary cancers.
KW - hereditary retinoblastoma
KW - MDM2
KW - p53
KW - single nucleotide polymorphisms
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U2 - 10.1038/jhg.2011.82
DO - 10.1038/jhg.2011.82
M3 - Article
C2 - 21814224
AN - SCOPUS:80053232386
VL - 56
SP - 685
EP - 686
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 9
ER -