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Genetic variation in the nucleotide excision repair pathway and colorectal cancer risk

Sonja I Berndt1, Elizabeth A Platz, M Daniele Fallin

  • 1Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
|November 23, 2006
PubMed

Insights

Genetic variants in DNA repair genes ERCC6 and XPC are linked to increased colorectal cancer risk. These findings highlight the role of nucleotide excision repair (NER) in cancer development.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • Nucleotide excision repair (NER) enzymes remove DNA damage from environmental carcinogens like those in tobacco smoke and cooked meats.
  • Colorectal cancer (CRC) risk is influenced by environmental factors and potentially genetic susceptibility.
  • NER pathway genetic variants may impact an individual's susceptibility to CRC.

Purpose of the Study:

  • To investigate the association between common genetic variants in NER genes and CRC risk.
  • To identify specific NER gene polymorphisms that modify CRC risk.
  • To evaluate the combined effect of key NER gene variants on CRC risk.

Main Methods:

  • A case-cohort study was conducted within the CLUE II cohort.
  • Twenty-two single nucleotide polymorphisms (SNPs) in 11 NER genes were genotyped in 250 CRC cases and 2,224 subcohort participants.
  • Incidence rate ratios (RR) and 95% confidence intervals (95% CI) were calculated using modified Cox regression and robust variance estimation.

Main Results:

  • The ERCC6 1213G variant was associated with increased CRC risk (RR=2.64 for GG genotype).
  • The XPC 492H allele was also linked to a higher CRC risk (RR=1.75).
  • A significant trend of increasing CRC risk was observed with the combined number of variant alleles in ERCC6 and XPC (P(trend)=0.00003).

Conclusions:

  • Genetic polymorphisms in ERCC6 and XPC are associated with an increased risk of colorectal cancer.
  • These findings suggest that variations in NER capacity may influence CRC susceptibility.
  • Further research into NER gene variants could inform personalized cancer prevention strategies.

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