Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in breast cancer: a Sardinian preliminary case-control study
| Autor: | Maria Rosaria Muroni, Antonio Azara, Marco Bisail, Paolo Castiglia, Giovanna Pira, Luciano Murgia, Valeria Sanna, Ciriaco Carru, Maria Rosaria De Miglio, Francesca Sanges, Alessandro Fancellu |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
Oncology Folate medicine.medical_specialty Breast Neoplasms Single-nucleotide polymorphism Breast cancer Polymorphism Single Nucleotide Body Mass Index law.invention 03 medical and health sciences 0302 clinical medicine Methylenetetrahydrofolate reductase (MTHFR) law Internal medicine Genotype Humans Medicine Genetic Predisposition to Disease Allele Methylenetetrahydrofolate Reductase (NADPH2) Polymerase chain reaction Aged SNPs C677T and A1298C biology business.industry Case-control study General Medicine Middle Aged medicine.disease Italy Case-Control Studies Lymphatic Metastasis Methylenetetrahydrofolate reductase biology.protein Female 030211 gastroenterology & hepatology Restriction fragment length polymorphism Polymorphisms business Research Paper |
| Zdroj: | International Journal of Medical Sciences |
| ISSN: | 1449-1907 |
| DOI: | 10.7150/ijms.32162 |
| Popis: | Two common polymorphisms in the MTHFR gene, C677T and A1298C, are associated with reduced enzyme activity and may be associated with breast cancer susceptibility. We performed a case-control study to investigate the association between the two SNPs in the MTHFR gene and risk of breast cancer. In total, 58 breast cancer patients and 58 unaffected controls were enrolled in the study. Polymerase chain reaction/restriction fragment length polymorphism technique (PCR-RFLP) was conducted to determine the genotypes. No significant differences were found in the genotypes of the two polymorphisms of the MTHFR gene between cases and controls. The OR and 95% CI for the 677CC, 677CT and 677TT genotypes were 1.00, 0.95 (0.39-2.31) and 0.87 (0.27-2.80), respectively; those of the 1298AA, 1298AC and 1298CC genotypes were 1.00, 0.59 (0.26-1.36) and 0.78 (1.32-4.66) respectively. Furthermore, it has been shown in patients with breast cancer a risk of presenting with an aggressive biophenotype about twice or three times higher in the presence of the C677T and A1298C polymorphisms, respectively. Finally, the A1298Cpolymorphism is significantly associated with increased recurrence risk of lymph node-positive breast cancer. Our study has not shown a significant association between MTHFR gene polymorphisms and breast cancer risk. However, it highlighted the key-role played by the presence of mutant alleles for both polymorphisms in increasing the risk of developing more aggressive phenotypes; moreover, specifically in A1298C, it might also lead to a higher risk of developing lymph node metastasis. |
| Databáze: | OpenAIRE |
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