In:
Molecular Genetics & Genomic Medicine, Wiley, Vol. 6, No. 4 ( 2018-07), p. 533-540
Kurzfassung:
DNA repair genes are crucial for maintaining genomic stability by preventing mutagenesis and carcinogenesis. The present retrospective cohort study aimed at investigating whether MLH 1 , APEX 1 , MUTYH , OGG 1 , NUDT 1 , XRCC 5, XPA , and ERCC 2 single nucleotide polymorphisms ( SNP s) 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 ( HR s) and 95% confidence intervals ( CI s) for the association between DNA repair SNP s and CRC were calculated using a weighted Cox proportional hazard regression model. Results Heterozygous variants of rs1799832 in NUDT 1 ( HR = 2.97, 95% CI = 1.51–5.83) and rs13181 in ERCC 2 ( 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 NUDT 1 , ERCC 2, 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.
Materialart:
Online-Ressource
ISSN:
2324-9269
,
2324-9269
DOI:
10.1002/mgg3.2018.6.issue-4
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2018
ZDB Id:
2734884-2
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