Two ATM variants, IVS10-6T>G and 1420L>F, and breast cancer risk

摘要: Proc Amer Assoc Cancer Res, Volume 46, 2005 1883 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 associations between certain variants and In order to estimate the risks cancer associated with more precisely, we examined two variants, IVS10-6T>G 1420L>F, additional cases controls from same Australian cohorts used IVS10-6T>G. A total 775 84 population-based were genotyped for 1420L>F respectively, as index 378 373 non-BRCA1 /2 families. Penetrance was estimated by Bayes factor analysis. The allele frequencies 0.005 (95% CI = 0.002 0.009) 0.012 0.001 0.042) respectively. identified three new multiple-case families IVS10-6T>G, seven 1420L>F. Combining reported, penetrance age 70 17.2% 4.7% 37.5%). For average 4.8% 1.7% 10.1%). conclusion, found no evidence that variant increases risk, little confers an elevated risk. Analysis will be necessary define precisely if any, .