Journal
ONCOGENE
Volume 25, Issue 43, Pages 5906-5911Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.onc.1209873
Keywords
ATM; breast cancer susceptibility; ataxia-telangiectasia; breast cancer genes
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ATM was originally identified by positional cloning as the gene that underlies the autosomal recessive condition ataxia-telangiectasia. The encoded protein plays a central role in the complex processes that repair DNA double-strand breaks. Nearly 20 years ago, epidemiological surveys of relatives of ataxia-telangiectasia cases suggested that female relatives were at modestly increased risk of breast cancer. Subsequently, many studies have tried to clarify the role of ATM in breast cancer susceptibility, but have produced inconclusive and/or inconsistent results. Recently, large epidemiological and molecular studies have finally provided conclusive evidence that ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.
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