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Polymorphisms in Steroid Hormone Biosynthesis Genes and Risk of Breast Cancer and Fibrocystic Breast Conditions in Chinese Women

Programs in ¹ Epidemiology, ² Cancer Biology, and ³ Biostatistics, Division of Public Health Sciences, and ⁴ Division of Human Biology, Fred Hutchinson Cancer Research Center; ⁵ Department of Epidemiology, School of Public Health and Community Medicine, and ⁶ Department of Otolaryngology: Head and Neck Surgery, School of Medicine, University of Washington, Seattle, Washington; ⁷ Arizona Clinical Research Center, Tucson, Arizona; ⁸ Institute of Medical Biology, University of Tromsø, Tromsø, Norway; and ⁹ Department of Epidemiology, Zhongshan Hospital Cancer Center, Fudan University, Shanghai, China

Requests for reprints: Chu Chen, Program in Epidemiology, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Mailstop M5-800, P.O. Box 19024, Seattle, WA 98109-1024. Phone: 206-667-6644; Fax: 206-667-2537. E-mail: cchen{at}fhcrc.org

Common variants in genes encoding for key enzymes involved in steroidogenesis may alter sex steroid hormone levels, thereby influencing susceptibility to breast carcinoma and related conditions. In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAAAA)_n] repeat (D15S520), CYP17A1 rs743572, and HSD17B1 rs605059 polymorphisms in relation to the risk of breast cancer and fibrocystic breast conditions, comparing 615 women with breast cancer and 467 women with fibrocystic breast conditions separately with 879 women without clinical breast disease. We also evaluated whether these relationships differed by the presence of proliferation in the extratumoral epithelium or fibrocystic lesions, menopausal status, or body mass index. Only CYP11A1 genotype was related to breast cancer risk, with women homozygous for the 4-repeat allele, relative to those homozygous for the 6-repeat allele, at reduced risk (age-adjusted odds ratio, 0.58; 95% confidence interval, 0.37-0.91). There was some suggestion of a stronger inverse association for breast cancer with evidence of proliferation in the extratumoral epithelium than for breast cancer without extratumoral proliferation. Breast cancer risk associated with CYP11A1 genotype did not differ by menopausal status or body mass index level. No associations between CYP11A1, CYP17A1, and HSD17B1 genotypes and risk of fibrocystic breast conditions were observed. Our findings support the possibility that common allelic variation at the CYP11A1 D15S520 locus alters breast cancer risk in Chinese women. (Cancer Epidemiol Biomarkers Prev 2008;17(5):1066–73)