ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.

  title={ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.},
  author={Annegien Broeks and Jos Urbanus and Arno N. Floore and Ellen C Dahler and Jan G. M. Klijn and Emiel J. Th Rutgers and Peter Devilee and Nicola S. Russell and Flora E van Leeuwen and Laura J van 't Veer},
  journal={American journal of human genetics},
  volume={66 2},
Approximately 0.5%-1% of the general population has been estimated to be heterozygous for a germline mutation in the ATM gene. Mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T) (MIM 208900). The finding that ATM-heterozygotes have an increased relative risk for breast cancer was supported by some studies but not confirmed by others. In view of this discrepancy, we examined the frequency of ATM germline mutations in a selected group of… CONTINUE READING


Publications citing this paper.
Showing 1-10 of 79 extracted citations

ATM, a central controller of cellular responses to DNA damage

Cell Death and Differentiation • 2001
View 4 Excerpts
Highly Influenced

Genetic polymorphisms of ataxia telangiectasia mutated and breast cancer risk.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology • 2005
View 4 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…