@article{oai:repo.qst.go.jp:00044242, author = {V., Kondrashova Tatiana and Neriishi, Kazuo and Ban, Sadayuki and I., Ivanova Tatiana and I., Krikunova Lyudmila and I., Shentereva Nataliya and A., Smirnova Iya and A., Zharikova Irina and V., Konova Marina and Taira, Senjun and F., Tsyb Anatoly and 伴 貞幸}, issue = {1}, journal = {Biochimica et Biophysica Acta. Molecular Basis of Disease}, month = {Nov}, note = {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, or 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 (ptrend=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 (ptrend=0.008), but no age-related OR differences in endometrial cancer patients.}, pages = {59--65}, title = {Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers}, volume = {1762}, year = {2005} }