title: Methylenetetrahydrofolate reductase polymorphism and minor increase of risk for oral cancer.
abstract: OBJECTIVE
  We investigated whether the mutant methylenetetrahydrofolate reductase (MTHFR) increases risk for oral cancer. The common germ-line mutation C677T in the MTHFR gene significantly diminishes specific activity of the enzyme, which is responsible for the circulating form of folate. Folate deficiency is associated with increased risk for thrombosis, as well as for several types of cancer, through disruption of DNA methylation, DNA synthesis and deficient DNA repair.
  
  
  METHODS
  We searched for the C677T mutation by restriction fragment analysis of PCR products in DNA samples of 110 patients with oral squamous cell carcinoma and 120 healthy controls of comparable ethnicity, age and sex.
  
  
  RESULTS
  The number of heterozygotes was significantly different in the two groups (P<0.005), as well as in subgroups of patients with or without a positive family history for cancer, compared to normal controls (P<0.01 and P<0.005, respectively). Furthermore, the subgroup of patients with a positive family history for thrombophilia had a significant increase both in the frequencies of mutant alleles (P<0.01) and heterozygotes (P<0.001) in comparison to normal controls.
  
  
  CONCLUSIONS
  The obtained results suggest that the MTHFR mutation is a minor contributing factor in oncogenesis in the oral region, in conjunction with low dietary uptake of folate.
authors.affiliation: Department of Maxillofacial Surgery, University of Athens Medical School, Athens, Greece.
authors.forename: E
authors.initials: E
authors.lastname: Vairaktaris
authors.forename: C
authors.initials: C
authors.lastname: Yapijakis
authors.forename: P
authors.initials: P
authors.lastname: Kessler
authors.forename: A
authors.initials: A
authors.lastname: Vylliotis
authors.forename: J
authors.initials: J
authors.lastname: Ries
authors.forename: J
authors.initials: J
authors.lastname: Wiltfang
authors.forename: S
authors.initials: S
authors.lastname: Vassiliou
authors.forename: S
authors.initials: S
authors.lastname: Derka
authors.forename: F W
authors.initials: FW
authors.lastname: Neukam
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016022:Case-Control Studies; D004032:Diet; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)