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CYP17 gene is involved in steroidogenesis and steroid metabolism. Epidemiologic results on the association betwen the CYP17 polymor-phism and breast cancer risk have ben incon-sistent. We examined the association between the MspAI polymorphism at +27 relative to the start of transcription in the 5-untranslated re-gion of CYP17 gene and breast cancer risk in Korean women. Four hundred and sixty-two in-cident cases and 337 controls were recruited from three teaching hospitals in Seoul during 1994-2001. Polymorphism of the CYP17 gene was determined by a single base extension as-say. Demographic and lifestyle characteristics were identified using structured questionaire. Age-adjusted (aOR) and multivariate ods ratios (mOR) and 95% confidence intervals (CI) were The proportions of A1/A1, A1/A2 and A2/A2 ge-notypes among controls were 20.8%, 45.1% and 34.1%, respectively. Compared to the A1/A1 ge-notype, A1/A2 or A2/A2 genotype was not sta-tistically significantly associated with overall breast cancer risk (i.e., mOR = 1.01, 95% CI =0.69-1.47 and mOR = 0.76, 95% CI = 0.51-1.14, re-spectively). However, a significant association betwen CYP17 A2/A2 genotype and breast can-cer was observed among women aged 50 years or less (mOR = 0.58, 95% CI = 0.34-0.99, P =0.04) and leaner women (body mass index < 22 kg/ m2) (mOR = 0.48, 95% CI = 0.23-0.97, P = 0.04). Our results sugest that genetic polymorphism in 5-untranslated region of CYP17 might play a role in breast cancer development in Korean women among younger women aged les than 50 or leaner women with body mass index less than 22 kg/m2.

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