Association of MTHFR gene polymorphisms with pancreatic cancer: meta-analysis of 17 case–control studies

Strong Correlation of MTHFR Gene Polymorphisms with Breast Cancer and its Prognostic Clinical Factors among Egyptian Females

“…Combined genotypes of MTHFR A1289C (AC+CC) percentage was much higher in patients (89%) than in controls (46.7%) with high significant difference (p=0.001). In agreement to that, it is reported that mutation of MTHFR from 677C to T and A1298 to C reduces the enzyme activity that leads to decreasing the yield of methyl donor SAM which eventually affects the methylation of DNA causing hypomethylation and consecutive activation of carcinogenic oncogenes (Weisberg et al, 1998;Liu et al, 2012;Nie et al, 2020).…”

“…Studies conducted on Turkish and Italian population demonstrated that the risk of breast cancer increase due to the presence of C allele as well as it is attributed to decreasing the enzyme activity by15% and 30% for heterozygous (AC) and homozygous (CC) carriers respectively, as a result of change of C-terminal regulatory domain of the protein that is linked with carcinogenesis (Weisberg et al, 1998;Ergul et al, 2003;Pepe et al, 2006). However, other findings and case-control studies did not reveal any correlations (Jiao and Li, 2013;Rai et al, 2014;Awwad et al, 2015;Nie et al, 2020). Furthermore, the interaction between genetic polymorphisms at the two loci was judged by evaluating the combined genotypes' effects (haplotype analysis).…”

Meta-analysis of the relationship between methylenetetrahydrofolate reductase C677T and A1298C polymorphism and venous thromboembolism in the Caucasian and Asian

“…If the gene sequence of 677 base cytosine C is mutated to thymine T, the valine generated by the mutation will replace the conserved alanine, which will lead to a serious decrease in the binding ability of MTHFR to flavin adenine dinucleotide [ 37 ]. The increased risk of many diseases caused by MTHFR mutation has been reported, such as congenital heart diseases [ 38 ], coronary artery disease [ 39 ], systemic lupus erythematosus [ 40 ] and cancer [ 41 ]. MTHFR’s thermal stability and enzyme activity were reduced due to the mutant T allele, resulting in hyperhomocysteine, which is an independent risk factor for VTE [ 42 ].…”