ATM and breast cancer susceptibility

Oncogene. 2006 Sep 25;25(43):5906-11. doi: 10.1038/sj.onc.1209873.


ATM was originally identified by positional cloning as the gene that underlies the autosomal recessive condition ataxia-telangiectasia. The encoded protein plays a central role in the complex processes that repair DNA double-strand breaks. Nearly 20 years ago, epidemiological surveys of relatives of ataxia-telangiectasia cases suggested that female relatives were at modestly increased risk of breast cancer. Subsequently, many studies have tried to clarify the role of ATM in breast cancer susceptibility, but have produced inconclusive and/or inconsistent results. Recently, large epidemiological and molecular studies have finally provided conclusive evidence that ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

Publication types

  • Review

MeSH terms

  • Ataxia Telangiectasia Mutated Proteins
  • Breast Neoplasms / epidemiology*
  • Breast Neoplasms / genetics*
  • Cell Cycle Proteins / genetics*
  • DNA Damage
  • DNA Repair
  • DNA-Binding Proteins / genetics*
  • Female
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease*
  • Humans
  • Mutation*
  • Protein-Serine-Threonine Kinases / genetics*
  • Tumor Suppressor Proteins / genetics*


  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein-Serine-Threonine Kinases