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Article

The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC).

Journal of medical genetics - 1 Oct 2005

Krüger S, Bier A, Engel C, Mangold E, Pagenstecher C, von Knebel Doeberitz M, Holinski-Feder E, Moeslein G, Schulmann K, Plaschke J, Rüschoff J, Schackert H K

Abstract excerpt

The polymorphic variants at codon 72 of the p53 gene were shown to be functionally distinct in vitro, whereby the arginine (arg) variant induces apoptosis more efficiently than the proline (pro) variant. From the evidence that the DNA mismatch repair system and p53 interact to maintain genomic integrity, we hypothesized that the codon 72 variation may influence the age of onset of disease in HNPCC patients. We...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis

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Source

Open in PubMed Open full text

Identifiers

PMID: 16199549
DOI: 10.1136/jmg.2004.028506
PMCID: PMC1735929

Genes

MLH1
MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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