Association studies for finding cancer-susceptibility genetic variants

Nat Rev Cancer. 2004 Nov;4(11):850-60. doi: 10.1038/nrc1476.


Cancer is the result of complex interactions between inherited and environmental factors. Known genes account for a small proportion of the heritability of cancer, and it is likely that many genes with modest effects are yet to be found. Genetic-association studies have been widely used in the search for such genes, but success has been limited so far. Increased knowledge of the function of genes and the architecture of human genetic variation combined with new genotyping technologies herald a new era of gene mapping by association.

Publication types

  • Review

MeSH terms

  • Cell Transformation, Neoplastic
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Genotype
  • Humans
  • Neoplasms / genetics*
  • Research Design