Haploinsufficiency for tumour suppressor genes: when you don't need to go all the way

Biochim Biophys Acta. 2004 Jun 7;1654(2):105-22. doi: 10.1016/j.bbcan.2004.01.001.


Classical tumour suppressor genes are thought to require mutation or loss of both alleles to facilitate tumour progression. However, it has become clear over the last few years that for some genes, haploinsufficiency, which is loss of only one allele, may contribute to carcinogenesis. These effects can either be directly attributable to the reduction in gene dosage or may act in concert with other oncogenic or haploinsufficient events. Here we describe the genes that undergo this phenomenon and discuss possible mechanisms that allow haploinsufficiency to display a phenotype and facilitate the pathogenesis of cancer.

Publication types

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

MeSH terms

  • Alleles
  • Breast Neoplasms / genetics
  • Colorectal Neoplasms / genetics
  • Disease Progression
  • Female
  • Genes, Tumor Suppressor*
  • Humans
  • Leukemia / genetics
  • Loss of Heterozygosity
  • Male
  • Models, Biological
  • Models, Genetic
  • Mutation
  • Neoplasms / genetics
  • Neoplasms / pathology
  • Phenotype
  • Prostatic Neoplasms / genetics
  • Time Factors