ABSTRACT:
Background: Breast cancer is the most common type of cancer among women. The percentage of patients developing metastasis and progressing to advanced stages remains high. Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in folate metabolism and involved in DNA synthesis, DNA repair and DNA methylation. The most common MTHFR gene variant is C677T polymorphism. The aim of work was to investigate the association of the Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism C677T and occurrence of breast cancer in Egyptian women.
Subjects &Methods: This is a case control study. Sixty-four subjects were included in this study divided into case group & control group thirty-two subjects each.
Results: The percentage of TT genotype among case group was found to be significantly higher than that of control group (15.6% versus 3.1% respectively). The results showed that the individual carrying TT genotype suffered from higher risk of cancer breast compared to individual carrying CC genotype (OR=6, CI= 1.63-57.1). There was significant difference between the different genotypes among cases group as regarding estrogen, progesterone receptors and tumor grade. Thus estrogen, progesterone receptors and grade 2 were found to be significantly positive among CT genotypes compared to CC and TT genotypes.
Conclusion: This study shows an association of the TT genotype and the T allele of the MTHFR C677T gene with increased genetic risk for breast cancer among Egyptian females.
Key words: MTHFR; Gene Polymorphism; Breast cancer; PCR-RFLP.