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Background  The hereditary hemochromatosis gene  HFE  plays a pivotal role in iron homeostasis. The association between cancer and HFE hetero- or homozygosity has previously been shown including hepatocellular and nonhepatocellular malignancies. This study was performed to compare frequencies of  HFE  C282Y and H63D variants in Turkish women with breast cancer and healthy controls.    Methods  Archived DNA samples of Hacettepe University Oncology Institute were used in this study. The  HFE  gene was investigated by PCR-RFLP.    Results  All subjects studied were free from C282Y mutation. Thirty-nine patients had H63D mutation and were all heterozygous. H63D allele frequency was 22.2% (39/176) in the breast cancer patients, and 14% (28/200) in the healthy volunteers. Statistical analysis of cases with  HFE  H63D phenotype showed significant difference between breast cancer and healthy volunteers ( P  = 0.02).    Conclusion  Our results suggest that  HFE  H63D mutation frequencies were increased in the breast cancer patients in comparison to those in the general population. Also, odds ratios (odds ratio = 2.05) computed in this study suggest that H63D has a positive association with breast cancer.

HFE H63D mutation frequency shows an increase in Turkish women with breast cancer