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

Autor: Dicle Guc, Emine Nilufer Guler, Sibel Alyılmaz-Bekmez, Aysen Gunel-Ozcan
Přispěvatelé: Kırıkkale Üniversitesi
Jazyk: angličtina
Rok vydání: 2006
Předmět:
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
Zdroj: BMC Cancer
BMC Cancer, Vol 6, Iss 1, p 37 (2006)
ISSN: 1471-2407
Popis: 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.
Databáze: OpenAIRE
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