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

doi:10.1007/s00439-011-0957-1

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

Community

Back to search

Article

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

Human genetics - 1 Jun 2011

Wu Chih-Chieh, Krahe Ralf, Lozano Guillermina, Zhang Baili, Wilson Charmaine D, Jo Eun-Ji, Amos Christopher I, Shete Sanjay, Strong Louise C

Abstract excerpt

Li-Fraumeni syndrome (LFS) is a rare familial cancer syndrome characterized by early cancer onset, diverse tumor types, and multiple primary tumors. Germ-line TP53 mutations have been identified in most LFS families. A high-frequency single-nucleotide polymorphism, SNP309 (rs2279744), in MDM2 was recently confirmed to be a modifier of cancer risk in several case-series studies: substantially earlier cancer onset...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Infant

Share to Infant, Newborn

Share to Li-Fraumeni Syndrome

Share to Pedigree

Share to Proto-Oncogene Proteins c-mdm2

Share to Tumor Suppressor Protein p53

Source

Open in PubMed Open full text

Identifiers

PMID: 21305319
DOI: 10.1007/s00439-011-0957-1
PMCID: PMC4194062

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

Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.PMID 21305319Read ↗

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

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

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

Joint effects of germ-line p53 mutation and sex on cancer risk in Li-Fraumeni syndrome.Semantic proximity Read ↗

Inherited TP53 Mutations and the Li-Fraumeni Syndrome.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 ↗

Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.Semantic proximity Read ↗

An information-theoretic analysis of genetics, gender and age in cancer patients.Semantic proximity Read ↗

MDM2 SNP309 and cancer risk: a combined analysis.Semantic proximity Read ↗

Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome.Semantic proximity Read ↗

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

A single nucleotide polymorphism in the p53 pathway interacts with gender, environmental stresses and tumor genetics to influence cancer in humans.Semantic proximity Read ↗

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