Genetic predisposition to cancer - insights from population genetics

Nat Rev Genet. 2004 Oct;5(10):764-72. doi: 10.1038/nrg1450.


Individuals differ in their inherited tendency to develop cancer. Major single-gene defects that cause early cancer onset have been known for many years from their inheritance patterns, and inherited defects that have weaker effects on predisposition were also suspected to exist. Recent progress in cancer genetics has identified specific loci that are involved in cancer progression, many of which have key roles in DNA repair, cell-cycle control and cell-death pathways. Those loci, which are often mutated somatically during cancer progression, sometimes also contain inherited mutations. Recent genetic studies and quantitative population-genetic analyses provide a framework for understanding the frequency of inherited mutations and the consequences of these mutations for increased predisposition to cancer.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Age Factors
  • Apoptosis / genetics
  • Cell Cycle / genetics
  • DNA Repair / genetics
  • Genetic Predisposition to Disease*
  • Genetics, Population*
  • Mutation / genetics
  • Neoplasms / genetics*