[Gene polymorphisms].
Cancers can be considered as gene diseases. A number of mechanisms leading to cancer have been identified through the discovery of structural alterations of genes called 'oncogenes' and 'tumour suppressor genes'. Somatic and germinal mutations are rare but play a determinant role in the emergence of cancer, while common and frequent variations (polymorphisms) play a role in cancer susceptibility and in the effects of anticancer drugs (efficacy and toxicity). After a general overview on the structural and functional organisation of the human genome, we present here some of the techniques aimed at the identification of structural DNA variations. We present afterwards some examples of the role that play polymorphic constitutive variations of the genome in the occurrence of cancer (molecular epidemiology) and the activity of anticancer drugs (pharmacogenetics).
Inserm U916, Institut Bergonié, université de Bordeaux, 33076 Bordeaux Cedex, France. robert@bergonie.org
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D000970:Antineoplastic Agents / Q000627:therapeutic use; D001483:Base Sequence / Q000235:genetics; D016147:Genes, Tumor Suppressor / Q000502:physiology*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015894:Genome, Human / Q000235:genetics; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D009369:Neoplasms / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D009857:Oncogenes / Q000235:genetics*; D010597:Pharmacogenetics / Q000379:methods; D011110:Polymorphism, Genetic
D000970:Antineoplastic Agents