ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?

@article{Tapia2007ATMAV,
  title={ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?},
  author={Teresa Tapia and Alejandro S{\'a}nchez and Maricarmen Vallejos and Carolina Alvarez and Mauricio Moraga and Susan L. Smalley and Mauricio Camus and Manuel {\'A}lvarez {\'A}lvarez and Pilar Carvallo},
  journal={Breast Cancer Research and Treatment},
  year={2007},
  volume={107},
  pages={281-288}
}
Besides BRCA1 and BRCA2, two genes accounting for a small proportion of breast cancer cases, ATM has been widely proposed as a low-penetrance susceptibility gene. Several nucleotide changes have been proposed to be associated with breast cancer, still remaining a high controversy in this sense. We screened the ATM gene in 94 breast cancer patients selected from 78 high-risk families, not presenting a mutation in BRCA1 or BRCA2. We found three novel allelic variants: IVS64 + 51delT and p.L752L… CONTINUE READING

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On the proposed association of the ATM variants 5557 G > A and IVS 38 - 8 T > C and bilateral breast cancer

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