Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers

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• 作者：Tatiana V. Kondrashova ; Kazuo Neriishi ; Sadayuki Ban ; Tatiana I. Ivanova ; Lyudmila I. Krikunova ; Nataliya I. Shentereva ; Iya A. Smirnova ; Irina A. Zharikova ; Marina V. Konova ; Senjun Taira and Anatoly
• 关键词：HFE mutation ; Iron metabolism ; Oxidative stress ; Cancer risk ; Age
• 刊名：Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease
• 出版年：2006
• 出版时间：January 2006
• 年：2006
• 卷：1762
• 期：1
• 页码：59-65
• 全文大小：126 K

文摘

Possible association between the C282Y and H63D mutations in the HFE gene and estrogen-dependent cancer risk was assessed. Genotyping was performed using PCR amplification followed by digestion of products with specific restrictases. In a population of 260 healthy women (permanent residents of the southwest European Russia), mutant allele frequencies at the C282Y and H63D sites were evaluated as 3.3 and 16.3 % , respectively. In patients with breast, ovarian, and endometrial cancer, C282Y frequencies were also low (1.0, 1.3, and 3.8 % , respectively), and no cancer risk associated with the C282Y mutation was found. Odds ratios for breast cancer risk associated with the H63D mutation increased significantly with age: 0.5 in women below 48 years old, 1.0 in a range of 48–57 years, and 4.4 in older women (P_trend = 0.002). The latter value was statistically significant (95 % CI, 1.4–14.1), indicating that women bearing the H63D mutation may be at an increased breast cancer risk at an age above 57 years. Preliminary results obtained in patients with two other estrogen-dependent malignancies revealed the same tendency to OR increase with age in ovarian cancer patients (P_trend = 0.008), but no age-related OR differences in endometrial cancer patients.