Re-sequencing of the exonic regions of APE1 uncovered no novel amino acid substitutions in the 60 cancer cell lines of the NCI-60 panel, or in HeLa or T98G cancer cell lines; only the common D148E and Q51H variants were observed.
Analyses of the full data set indicated a marginally significant association of the APEX1 Asp148Glu polymorphism with cancer risk under allelic (odds ratio (OR)=1.05; 95% confidence interval (95% CI): 0.99-1.11; P=0.071), dominant (OR=1.09; 95% CI: 1.01-1.17; P=0.028), and heterozygous genotypic (OR=1.08; 95% CI: 1.01-1.16; P=0.026) models, with significant heterogeneity and publication bias.
The previously reported association of the APEX Asp148Glu single nucleotide polymorphism (SNP) with cancer, and the suggestion of associations of the XRCC3 Thr241Met and hOGG1 Ser326Cys SNP sites with G(2) chromosomal radiosensitivity were investigated in a new study of 30 childhood and young adult cancer survivors, their 30 partners, and 55 offspring.
Published data regarding the association between the apurinic/apyrimidinic endonuclease 1 (APE1) T1349G (Asp148Glu) polymorphism and cancer risk show inconclusive results.