Abstract
BackgroundGenetic variations in key DNA repair genes may influence DNA repair capacity, DNA damage and breast carcinogenesis. The current study aimed to estimate the association of APEX1 and OGG1 polymorphisms with the risk of breast cancer development.MethodsA total of 518 patients with histopathologically confirmed breast cancer and 921 region- and age-matched cancer-free controls were genotyped for the APEX1 polymorphisms rs3136817 and rs1130409 and the OGG1 polymorphisms rs1052133 and rs2072668 using a QuantStudio™ 12 K Flex Real-Time PCR System.ResultsThe rs3136817 heterozygous TC genotype along with the rs3136817 dominant model (TC + CC) was strongly associated with breast cancer susceptibility (odds ratio [OR] = 0.670, 95% confidence interval [95% CI]: 0.513 - 0.873, P = 0.003; OR = 0.682, 95% CI: 0.526 - 0.883, P = 0.004, respectively). No significant associations were observed among rs1130409, rs1052133, rs2072668 and breast cancer risk. Furthermore, an allele combination analysis revealed that APEX1 haplotypes containing C-T (alleles rs3136817 and rs1130409) conferred a significantly lower risk (corrected P < 0.001).ConclusionThis research is the latest report showing that an APEX1 rs3136817 heterozygous genotype may have a positive influence on DNA repair capacity in patients with breast cancer and thus may have a potential protective effect for Chinese Han women.
Highlights
Genetic variations in key DNA repair genes may influence DNA repair capacity, DNA damage and breast carcinogenesis
Roberts et al [18] drew the conclusion that single nucleotide polymorphisms (SNPs) in nucleotide excision repair (NER) genes and base excision repair (BER) genes affect the risk of developing breast cancer
In Apurinic/apyrimidinic endonuclease 1 (APEX1) rs3136817, we found that the heterozygous TC genotype and the C allele were associated with breast cancer risk
Summary
Genetic variations in key DNA repair genes may influence DNA repair capacity, DNA damage and breast carcinogenesis. The current study aimed to estimate the association of APEX1 and OGG1 polymorphisms with the risk of breast cancer development. OGG1 is a glycosidase that hydrolyzes the bonds between damaged bases and the sugar-phosphate backbone in DNA, creating an abasic site, while the endonuclease APEX1 cleaves the 5′ end of the abasic site. Mutations in these genes are expected to lead to a mutation-prone phenotype and contribute to tumor formation [16]. Studies of breast cancer and DNA repair have emphasized the relationship between different single nucleotide polymorphisms (SNPs) in DNA repair-related genes and the probability of developing carcinoma. Work by Smith et al [19] demonstrated only a slight positive association between individual DNA repair genotypes and breast cancer risk; the combined effects of multiple polymorphisms in DNA repair pathways may be more noteworthy
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