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EDITOR
We welcome Lavin's recognition of the important role that the
ataxia-telangiectasia (ATM) gene plays in breast cancer despite the
attention given to two other genes, BRCA1/BRCA2, which are numerically
less important.1 It is important to emphasise that the
evidence linking the ataxia-telangiectasia gene to breast cancer is
more than suggestive. As well as the two smaller studies referenced by
Lavin, two large epidemiological studies have clearly indicated the
increased risk of breast cancer among blood relatives of patients with
ataxia-telengiectasia.
2 3
In 1996 a study using genotyping technology and the statistically
powerful unbiased index test method for testing gene-disease associations provided compelling evidence that carriers of the ataxia-telangiectasia gene have a 3.8-fold increased risk of breast cancer compared with non-carriers.4 With a P value of
0.0001, it is unlikely that this result arose by chance. More precise estimates of the magnitude of this risk will become available as more
breast
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