Intraindividual somatic variations in MTHFR gene polymorphisms in relation to colon cancer.
Rai et al (2014) desired to discover the differences in the prevalence of MTHFR C677T and A1298C prevalence in normal and colon cancer tissue. Therefore, DNA isolated from tumour tissue was examined and compared with normal tissue in 155 colon cancer patients, whilst also being compared to the genotype frequencies in peripheral blood samples (compared with 294 controls). Results found the frequencies of MTHFR C677T and A1298C were significantly different between tumour and normal tissue in colon cancer patients. Overall, the A1298C mutation was found to be associated with colon cancer. The authors concluded that MTHFR variations may exists within difference tissues in an individual in order to maintain normal function, but then may have implications for susceptibility to disease.