Methylenetetrahydrofolate reductase polymorphism and minor increase of risk for oral cancer

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Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
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Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

E Vairaktaris1, C Yapijakis, P Kessler

  • 1Department of Maxillofacial Surgery, University of Athens Medical School, Athens, Greece.

Journal of Cancer Research and Clinical Oncology
|December 21, 2005
PubMed
Abstract

Insights

The methylenetetrahydrofolate reductase (MTHFR) C677T mutation may slightly increase oral cancer risk, particularly with a family history of cancer or thrombophilia. Low folate intake is also a contributing factor.

Area of Science:

  • Genetics
  • Oncology
  • Nutritional Biochemistry

Background:

  • The methylenetetrahydrofolate reductase (MTHFR) enzyme is crucial for folate metabolism.
  • The C677T MTHFR gene mutation reduces enzyme activity, potentially leading to folate deficiency.
  • Folate deficiency is linked to increased risks of thrombosis and certain cancers due to impaired DNA synthesis and repair.

Purpose of the Study:

  • To investigate the association between the MTHFR C677T mutation and the risk of oral cancer.
  • To determine if the MTHFR mutation's effect on oral cancer risk is modified by family history of cancer or thrombophilia.

Main Methods:

  • Restriction fragment analysis was used to detect the MTHFR C677T mutation in DNA samples.
  • The study included 110 patients with oral squamous cell carcinoma and 120 healthy controls.
  • Participants were matched for ethnicity, age, and sex.

Main Results:

  • A significant difference in heterozygote frequency for the MTHFR C677T mutation was observed between oral cancer patients and controls (P<0.005).
  • Patients with a family history of cancer or thrombophilia showed significantly higher frequencies of mutant MTHFR alleles and heterozygotes compared to controls.
  • The MTHFR mutation was associated with increased oral cancer risk, especially in those with a positive family history for cancer (P<0.01) or thrombophilia (P<0.001).

Conclusions:

  • The MTHFR C677T mutation appears to be a minor factor in oral oncogenesis.
  • The risk is likely influenced by interactions with other factors, such as low dietary folate intake.

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