Variants in the ATM gene and breast cancer susceptibility.
It has been established that heterozygous carriers of ataxia-telangiectasia-causing mutations in the ATM gene are at approximately two-fold higher risk of breast cancer. Several studies have attempted to assess the potential implication of the gene's more common variants in breast cancer susceptibility. Three large case-control studies have consistently found no evidence of association for variants with minor allele frequency greater than 5%. Other studies have evaluated associations for coding variants with intermediate frequency (1-5%), but the results are inconsistent. Larger and/or combined association studies are needed to clarify this issue.
Milne
Roger L
RL
Genetic & Molecular Epidemiology Group, Spanish National Cancer Research Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain.