Abstract

MOLECULAR BIOLOGY OF MTHFR (METHYLENETETRAHYDROFOLATE REDUCTASE) AND OVERVIEW OF MUTATIONS/ POLYMORPHISMS IN VARIOUS CANCERS

Srikanth Merugu, *Nirosha G, Vaishnavi M, Mounika CH, Bhavya S, Bhargav B.

ABSTRACT

Two functional single nucleotide polymorphisms (SNPs) in the 5,10- methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, lead to decreased enzyme activity and affect chemosensitivity of tumor cells, these variants, C677T, and A1298C has been shown to be associated with higher baseline homocysteine levels in the serum and is associated with an increased risk of vascular disease and neural tube defects. This polymorphism is linked to increased risk for certain cancers, such as endometrial cancer, breast cancer, ovarian cancer, esophageal cancer, and gastric cancer, and decreased risk for others, such as leukemia and colorectal cancer. Hence we conducted a literature survey which have been published from 1994- 2013 on such polymorphisms and their risk of developing cancers in various population.

Keywords: MTHFR, SNP, Homocysteine.