CYP1B1 is a key enzyme involved in estrogen metabolism and may play an important role in the development and progression of breast cancer. In a population-based case-controlst udy, we examined eight CYP1B1 haplotype-tagging single nucleotide polymorphisms in relation to invasive breast cancer risk. Analyses were based on 1,655 cases and 1,470 controls; all women were Caucasian. Among the individual single nucleotide polymorphisms, one (rs9341266) was associated with increased risk of breast cancer (Ptrend = 0.021), although the association was no longer significant after adjusting for multiple tests. A marginally significant haplotype effect was identified (P global = 0.015), with significant associations identified for 2 uncommon haplotypes comprising 4% of the controls.Results suggest that genetic variation in CYP1B1 has at most a minor influence on breast cancer susceptibility among Caucasian women.
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