The 677C > T mutation in 5,10-methylenetetrahydrofolate reductase and colorectal cancer risk

Genet Test. 1999;3(2):233-6. doi: 10.1089/gte.1999.3.233.


This paper examines whether there is a relationship between a common mutation in the methylenetetrahydrofolate reductase gene, MTHFR*val, and the risk of colorectal cancer, with or without lymph node metastases. MTHFR genotypes were ascertained from peripheral leukocyte samples obtained from 200 colorectal patients, including TMN stages I-VI, and from 460 healthy, unrelated adults without colorectal cancer, who served as controls. The frequency of homozygosity for the MTHFR*val/*val genotype among the colorectal cancer patients was lower (14.0%) than among controls (16.1%). The latter finding results in an estimated MTHFR*val allele frequency of 0.41. The MTHFR*val allele (677C > T) reduces colorectal risk slightly [odds ratio (OR), 0.87]. However, there was a significantly higher incidence of metastatic lymph nodes per case in MTHFR*val/*val patients, when compared with MTHFR*ala/*ala controls (6.9 +/- 1.55 vs. 3.7 +/- 0.57, p = 0.003). These results suggest that the MTHFR genotype might be of prognostic significance in colorectal carcinoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5,10-Methylenetetrahydrofolate Reductase (FADH2)
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Case-Control Studies
  • Colorectal Neoplasms / enzymology*
  • Colorectal Neoplasms / genetics*
  • Female
  • Gene Frequency
  • Genotype
  • Homozygote
  • Humans
  • Lymphatic Metastasis / genetics
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Middle Aged
  • Oxidoreductases / genetics*
  • Point Mutation*
  • Prognosis
  • Risk Factors


  • Oxidoreductases
  • 5,10-Methylenetetrahydrofolate Reductase (FADH2)
  • Methylenetetrahydrofolate Reductase (NADPH2)