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MTHFR Variants Reduce the Risk of G:C[arrow right]A:T Transition Mutations within the p53 Tumor Suppressor Gene in Colon Tumors1
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ABSTRACT
5,10-Methylene-tetrahydrofolate reductase (MTHFR) is a key enzyme in folate-mediated 1-carbon metabolism. Reduced MTHFR activity has been associated with genomic DNA hypomethylation. Methylated cytosines at CpG sites are easily mutated and have been implicated in G:C[arrow right]A:T transitions in the p53 tumor suppressor gene. We investigated 2 polymorphisms in the MTHFR gene (C677T and A1298C) and their associations with colon tumor characteristics, including acquired mutati...