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. 2009 Jan 22;1(1):12.
doi: 10.1186/gm12.

Variants in the ATM gene and breast cancer susceptibility

Roger L Milne  1
Affiliations

Variants in the ATM gene and breast cancer susceptibility

Roger L Milne. Genome Med. .

Abstract

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.

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