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- W2552273856 abstract "Proc Amer Assoc Cancer Res, Volume 46, 20051883 The ATM gene is mutated in ataxia-telangiectasia (A-T). Female A-T heterozygotes have a 2-7 fold increased risk of breast cancer. We previously reported high risk associations between certain ATM variants and breast cancer. In order to estimate the risks of breast cancer associated with ATM variants more precisely, we have examined two ATM variants, IVS10-6T>G and 1420L>F, in additional cases and controls from the same Australian cohorts previously used to estimate the risk of breast cancer associated with IVS10-6T>G. A total of 775 and 84 population-based controls were genotyped for the IVS10-6T>G and 1420L>F ATM variants respectively, as were index cases from 378 and 373 non-BRCA1 /2 breast cancer families. Penetrance was estimated by Bayes factor analysis. The allele frequencies of ATM IVS10-6T>G and 1420L>F estimated from controls were 0.005 (95% CI = 0.002 to 0.009) and 0.012 (95% CI = 0.001 to 0.042) respectively. We identified three new multiple-case breast cancer families with ATM IVS10-6T>G, and seven families with 1420L>F. Combining with the two IVS10-6T>G families previously reported, the estimated penetrance to age 70 of IVS10-6T>G was 17.2% (95% CI = 4.7% to 37.5%). For 1420L>F, the estimated average penetrance was 4.8% (95% CI 1.7% to 10.1%). In conclusion, we found no evidence that the ATM 1420L>F variant increases breast cancer risk, and little evidence that IVS10-6T>G confers an elevated risk. Analysis of additional families will be necessary to define more precisely the risk, if any, associated with IVS10-6T>G. ." @default.
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- W2552273856 date "2005-05-01" @default.
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- W2552273856 title "Two ATM variants, IVS10-6T>G and 1420L>F, and breast cancer risk" @default.
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