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Association of Breast Cancer Risk with a GT Dinucleotide Repeat Polymorphism Upstream of the Estrogen Receptor- Gene¹

Department of Medicine and Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, Tennessee 37232 [Q. C., W. W., X-O. S., J. R. S., W. Z.], Medical Research Service, VA Tennessee Healthcare System, Nashville, TN 37212 [J. R. S.] and Department of Epidemiology, Shanghai Cancer Institute, Shanghai, China 200032 [Y-T. G., F. J.]

Recent studies suggest that genetic polymorphisms of the estrogen receptor- (ER-) gene may be associated with breast cancer risk. To evaluate the role of this gene in the risk of breast cancer, we genotyped a newly identified GT dinucleotide repeat [(GT)_n] polymorphism located in the promoter region (6.6 kb upstream of the transcription start site) in 947 breast cancer cases and 993 age frequency-matched community controls from a population-based case-control study conducted among Chinese in urban Shanghai. Sixteen alleles were identified, the most common one having 16 GT repeats [(GT)₁₆]. Compared with subjects homozygous for this allele, subjects carrying the (GT)₁₇ or (GT)₁₈ allele had a decreased risk of breast cancer. The odds ratios (ORs) were 0.81 [95% confidence interval (CI), 0.62–1.06] and 0.58 (95% CI, 0.36–0.94), respectively, for one and two copies of the (GT)₁₇ or (GT)₁₈ allele. The inverse association with carrying either of these alleles was stronger among women with >30 years of menstrual cycles (OR 0.66; 95% CI 0.51–0.85) than those with a shorter duration of menstrual cycles (OR 0.97; 95% CI 0.73–1.27), and the test for an interaction was statistically significant (P = 0.04). Among breast cancer patients, the presence of either the (GT)₁₇ or (GT)₁₈ allele was associated with a reduced expression of progesterone receptor. Results of this study indicate that the GT dinucleotide repeat polymorphism in ER- gene promoter region may be a new biomarker for genetic susceptibility to breast cancer.

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