p53 website and analysis of p53 gene mutations in human cancer: forging a link between epidemiology and carcinogenesis

Hum Mutat. 2000;15(1):105-13. doi: 10.1002/(SICI)1098-1004(200001)15:1<105::AID-HUMU19>3.0.CO;2-G.

Abstract

The p53 tumor suppressor gene has proven to be one of the genes most often mutated in human cancers. It involves mainly point mutations leading to amino acid substitutions in the central region of the protein which impairs normal functions. Analysis of the mutational events that target the p53 gene has revealed evidence for both exogenous and endogenous mutational mechanisms. For example, the p53 mutational spectrum reveals evidence for a direct causal effect of ultraviolet radiation in skin cancer, of aflatoxin B1 in liver cancer, and of tobacco smoke in lung cancer. This novel field, molecular epidemiology of human cancer risk, has added a new dimension to classical associative epidemiology by providing a direct link between human cancer and carcinogen exposure. For such analysis, we devised a generic software called UMD (Universal Mutation Database). It was developed as a generic software to create locus-specific databases (LSDBs) with the 4(th) Dimension(R) package from ACI. This software includes an optimized structure to assist and secure data entry and to allow the input of various clinical data.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinogens
  • Cell Transformation, Neoplastic / genetics
  • Database Management Systems
  • Genes, p53*
  • Humans
  • Internet*
  • Molecular Epidemiology*
  • Mutation*
  • Neoplasms / epidemiology
  • Neoplasms / genetics*

Substances

  • Carcinogens