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Article

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.

Journal of human genetics - 1 Sept 2011

Epistolato Maria Carmela, Disciglio Vittoria, Livide Gabriella, Berchialla Paola, Mencarelli Maria Antonietta, Marozza Annabella, Amenduni Mariangela, Hadjistilianou Theodora, De Francesco Sonia, Acquaviva Antonio, Toti Paolo, Cetta Francesco, Ariani Francesca, De Marchi Mario, Renieri Alessandra, Giachino Daniela

Abstract excerpt

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...

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Source

Identifiers

PMID: 21814224
DOI: 10.1038/jhg.2011.82

Genes

MDM2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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