Polymorphisms of DNA repair genes are associated with colorectal cancer in patients with Lynch syndrome

Abram B. Kamiza, Ling Ling Hsieh, Reiping Tang, Huei Tzu Chien, Chih Hsiung Lai, Li Ling Chiu, Tsai Ping Lo, Kuan Yi Hung, Jeng Fu You, Wen Chang Wang, Chao A. Hsiung, Chih Ching Yeh

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


Background: DNA repair genes are crucial for maintaining genomic stability by preventing mutagenesis and carcinogenesis. The present retrospective cohort study aimed at investigating whether MLH1, APEX1, MUTYH, OGG1, NUDT1, XRCC5, XPA, and ERCC2 single nucleotide polymorphisms (SNPs) are associated with colorectal cancer (CRC) in Chinese population with Lynch syndrome. Methods: From Amsterdam criteria family registry, we identified 270 patients with Lynch syndrome. Hazard ratios (HRs) and 95% confidence intervals (CIs) for the association between DNA repair SNPs and CRC were calculated using a weighted Cox proportional hazard regression model. Results: Heterozygous variants of rs1799832 in NUDT1 (HR = 2.97, 95% CI = 1.51–5.83) and rs13181 in ERCC2 (HR = 2.69, 95% CI = 1.10–6.55) were significantly associated with an increased risk of CRC compared with wild-type homozygous CC and TT genotypes, respectively. However, the variant CG+GG genotype of MUTYH rs3219489 was associated with a decreased risk of CRC (HR = 0.49, 95% CI = 0.26–0.91) compared with the homozygous CC wild-type counterparts. Conclusion: Our findings revealed that polymorphisms of DNA repair genes that include NUDT1, ERCC2, and MUTYH are associated with CRC in patients with Lynch syndrome in Chinese population. Further studies with large sample size are needed to confirm our findings.

Original languageEnglish
Pages (from-to)533-540
Number of pages8
JournalMolecular Genetics and Genomic Medicine
Issue number4
Publication statusPublished - Jul 1 2018


  • colorectal cancer
  • DNA repair
  • Lynch syndrome
  • polymorphisms
  • Taiwan

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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