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. © 2009 BioMed Central Ltd.
CITATION STYLE
Milne, R. L. (2009, January 21). Variants in the ATM gene and breast cancer susceptibility. Genome Medicine. https://doi.org/10.1186/gm12
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