Abstract
Validation of an association between the UGT1A6_19_T>G (rs6759892) polymorphism and overall breast cancer risk. A pilot study included two population-based case-control studies from Germany (MARIE-GENICA). An independent validation study comprised four independent breast cancer case-control studies from Finland (KBCP, OBCS), Germany (BBCC), and Sweden (SASBAC). The pooled analysis included 7418 cases and 8720 controls from all six studies. Participants were of European descent. Genotyping was done by MALDI-TOF MS and statistical analysis was performed by logistic regression adjusted for age and study. The increased overall breast cancer risk for women with the UGT1A6_19_GG genotype which was observed in the pilot study was confirmed in the set of four independent study collections (OR 1.13, 95% CI 1.05–1.22; p = 0.001). The pooled study showed a similar effect (OR 1.09, 95% CI 1.04–1.14; p = 0.001). The risk effect on the basis of allele frequencies was highly significant, the pooled analysis showed an OR of 1.11 (95% CI 1.06–1.16; p = 5.8 × 10−6). We confirmed the association of UGT1A6_19_GG with increased overall breast cancer risk and conclude that our result from a well powered multi-stage study adds a novel candidate to the panel of validated breast cancer susceptibility loci.
Highlights
Validation of an association between the UGT1A6_19_T>G polymorphism and overall breast cancer risk
We previously reported their possible effect on breast cancer risk in two populationbased case-control studies from Germany (The Mammary Carcinoma Risk Factor Investigation (MARIE)-Gene Environment Interactions and Breast Cancer study (GENICA) Consortium, 2010)
The confirmation of the increased overall breast cancer risk of odds ratios (OR) 1.13 is reported
Summary
Validation of an association between the UGT1A6_19_T>G (rs6759892) polymorphism and overall breast cancer risk. The variant alleles have been associated with decreased activity of the UGT1A6 enzyme (Ciotti et al, 1997) We previously reported their possible effect on breast cancer risk in two populationbased case-control studies from Germany (The MARIE-GENICA Consortium, 2010). To validate the roles of UGT1A6 polymorphisms in breast cancer risk we conducted an independent confirmatory study and a pooled analysis with more than 7000 patients and 8000 controls, and report the association between the UGT1A6_19_GG genotype and an increased overall breast cancer risk
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