Eureka! Institutional Repository

Breast cancer is the most common type of cancer in women worldwide (and the second most frequent cancer in general), with nearly 1.7 million new diagnoses in 2012. C677T polymorphism has been suggested to affect the metabolism of folate, methylation, synthesis and repair of DNA and that helps promote tumors in the mammary gland. The aim of this study is to investigate the frequency of the C677T mutation of MTHFR gene in women with breast cancer. The study included 47 women with breast cancer, histologically and cytologically diagnosed. DNA was isolated from formalin-fixed, paraffin-embedded tissue samples. Polymerase Chain Reaction followed by digestion with restriction enzymes was applied in the isolated DNA solutions. Results indicated that of the 47 patients examined, 21 were homozygous for the normal allele C (CC genotype 44.7%), 25 were heterozygous (CT genotype 53.2%) and 1 was homozygous for the mutant allele T (TT genotype was 2.1%). Compared to the study of polymorphism in a healthy Greek population our results show a relative ratio with respect to the emergence of genotypes with slightly reduced the percentage of homozygosity for genotype TT. As our study is still in progress, the current number of samples is quite limited so we can draw a safe conclusion on the association of the C677T polymorphism with breast cancer. The investigation of a larger number of samples is required to meet the criteria that will allow us to reach a safe conclusion.