1. HFE H63D mutation frequency shows an increase in Turkish women with breast cancer
- Author
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Dicle Guc, Emine Nilufer Guler, Sibel Alyılmaz-Bekmez, Aysen Gunel-Ozcan, and Kırıkkale Üniversitesi
- Subjects
Oncology ,Cancer Research ,Turkey ,H63d mutation ,DNA Mutational Analysis ,Polymerase Chain Reaction ,Surgical oncology ,Odds Ratio ,education.field_of_study ,Homozygote ,DNA Restriction Enzymes ,Middle Aged ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Gene Expression Regulation, Neoplastic ,Phenotype ,Hereditary hemochromatosis ,Female ,Polymorphism, Restriction Fragment Length ,Research Article ,Adult ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Heterozygote ,Population ,Breast Neoplasms ,lcsh:RC254-282 ,Breast cancer ,Internal medicine ,Genetics ,medicine ,Humans ,education ,Hemochromatosis Protein ,Allele frequency ,Aged ,Models, Statistical ,business.industry ,Histocompatibility Antigens Class I ,Cancer ,nutritional and metabolic diseases ,Membrane Proteins ,Odds ratio ,DNA ,medicine.disease ,Molecular Weight ,Case-Control Studies ,Immunology ,Mutation ,business - Abstract
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.
- Published
- 2006