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

@article{Broeks2000ATMheterozygousGM,
  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},
  year={2000},
  volume={66 2},
  pages={494-500}
}
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

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