Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Familial cancer - 1 Mar 2014

Renaux-Petel Mariette, Sesboüé Richard, Baert-Desurmont Stéphanie, Vasseur Stéphanie, Fourneaux Steeve, Bessenay Emilie, Frébourg Thierry, Bougeard Gaëlle

Abstract excerpt

In the Li-Fraumeni syndrome (LFS) resulting from germline TP53 mutations, the MDM2 SNP309G allele has been shown to be associated with an earlier age of tumour onset, however the significance of this association is controversial. The 285C variation, also located in the MDM2 promoter, has been shown to reduce the strength of Sp1 binding to MDM2 promoter, antagonizing the effect of the 309G variation. In this...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to MDM2 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Haplotypes

Share to Li-Fraumeni Syndrome

Share to Polymorphism, Single Nucleotide

Share to Proto-Oncogene Proteins c-mdm2

Share to Tumor Suppressor Protein p53

Source

Identifiers

PMID: 23884452
DOI: 10.1007/s10689-013-9667-2

Genes

MDM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome.PMID 23884452Read ↗

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

MDM2 promoter SNP285 and SNP309; phylogeny and impact on cancer risk.Semantic proximity Read ↗

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

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

The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians.Semantic proximity Read ↗

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 ↗

Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.Semantic proximity Read ↗

MDM2 SNP309 does not confer an increased risk to oral squamous cell carcinoma but may modulate the age of disease onset.Semantic proximity Read ↗

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

Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.