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Article

The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes.

European journal of human genetics : EJHG - 1 Jan 2007

Ruijs Mariëlle W G, Schmidt Marjanka K, Nevanlinna Heli, Tommiska Johanna, Aittomäki Kristiina, Pruntel Roelof, Verhoef Senno, Van't Veer Laura J

Abstract excerpt

Li-Fraumeni syndrome (LFS) is an autosomal-dominant cancer predisposition syndrome of which the majority is caused by TP53 germline mutations and is characterised by different tumour types occurring at relatively young age. Recently, it was shown that a single-nucleotide polymorphism (SNP) in the MDM2 gene, SNP309 (T>G variation), was associated with accelerated tumour formation in LFS patients who carry a TP53...

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Identifiers

PMID: 17003841
DOI: 10.1038/sj.ejhg.5201715

Genes

MDM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes.PMID 17003841Read ↗

Evaluation of TP53 Pro72Arg and MDM2 SNP285-SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations.Semantic proximity Read ↗

The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome.Semantic proximity Read ↗

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p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers.Semantic proximity Read ↗

Association between MDM2-SNP309 and age at colorectal cancer diagnosis according to p53 mutation status.Semantic proximity Read ↗

Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome.Semantic proximity Read ↗

Impact of the <i>MDM2</i> SNP309 and <i>p53</i> Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndromeSemantic proximity Read ↗

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TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.Semantic proximity Read ↗

The MDM2 promoter polymorphism SNP309T-->G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck.Semantic proximity Read ↗

MDM2 SNP309 G allele decreases risk but does not affect onset age or survival of Chinese leukaemia patients.Semantic proximity Read ↗

MDM2 SNP309 G allele increases risk but the T allele is associated with earlier onset age of sporadic breast cancers in the Chinese population.Semantic proximity Read ↗

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