A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

@article{Telatar1998AMF,
  title={A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.},
  author={Milhan Telatar and Shuling Wang and Sergi Castellv{\'i}-Bel and L Q Tai and S Sheikhavandi and Jose R Regueiro and Oscar Porras and Richard A. Gatti},
  journal={Molecular genetics and metabolism},
  year={1998},
  volume={64 1},
  pages={36-43}
}
Ataxia telangiectasia (A-T) is an autosomal recessive disorder with a broad range of clinical manifestations and a frequency of 1:40,000-100,000 live births. Epidemiological studies have suggested that A-T heterozygotes are at an elevated risk of breast cancer. ATM mutations occur worldwide over the entire ATM gene, making it difficult to identify heterozygotes in large populations. However, some founder-effect mutations are specific for certain populations. Here, we present four mutations in… CONTINUE READING