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Comprehensive Review

Controversial roles of methylenetetrahydrofolate reductase polymorphisms and folate in breast cancer disease

Pages 43-49 | Received 17 Feb 2014, Accepted 12 Aug 2014, Published online: 16 Oct 2014
 

Abstract

Breast cancer (BC) represents a highly heterogeneous tumour at both the clinical and molecular levels. Single-nucleotide polymorphisms (SNPs) of the folate-metabolising enzyme methylenetetrahydrofolate-reductase (MTHFR) may modify the association between folate intake and BC and influence plasma folate concentration. The role of folate in BC is equivocal, association studies between the common MTHFR SNPs C677T and A1298C and BC risk are controversial. In this study, I have reviewed observed associations between folate intake, as well as its blood levels, and BC. The purpose of this review is to analyse the role of folate and the two SNPs associated with reduced enzyme activity in BC. I explored the most relevant and updated work that emphasises positive and negative associations among these variables. My findings indicate that no definitive conclusions can be drawn from the studies on this topic. However, this manuscript highlights variables that could be useful to explore in further association analyses.

Acknowledgements

Special thanks to Prof. Maurizio La Guardia for helpful discussions and useful suggestions. The author also thanks the researchers of LATO and IBFM-CNR Proteogenomic Lab for useful revisions.

Declaration of interest

This work was supported by FIRB/MERIT (RBNE089KHH) and “Proteogenomica e Bioimaging in Medicina” project (n. DM45602). The author declares that she has no conflicts of interest.

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