Genetic & Molecular Epidemiology Group, Spanish National Cancer Research Center (CNIO), Melchor Fernández Almagro 3, 28029 Madrid, Spain.
Genome Med. 2009 Jan 22;1(1):12. doi: 10.1186/gm12.
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.
已经确定，ATM 基因突变的杂合携带者患乳腺癌的风险大约增加两倍。有几项研究试图评估该基因更常见变异体在乳腺癌易感性中的潜在意义。三项大型病例对照研究一直没有发现证据表明频率大于 5%的变异体与乳腺癌相关联。其他研究评估了中间频率（1-5%）的编码变异体的关联，但结果不一致。需要更大和/或联合的关联研究来阐明这个问题。
