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In first part of this study association between OGG1 polymorphisms and breast cancer susceptibility was explored by meta-analysis. Second part of the study involved 925 subjects, used for mutational analysis of OGG1 gene using PCR-SSCP and sequencing. Fifteen mutations were observed, which included five intronic mutations, four splice site mutations, two 3′UTR mutations, three missense mutations, and a nonsense mutation. Significantly ( p  < 0.001) increased (~29 fold) breast cancer risk was associated with a splice site variant g.9800972T>G and 3′UTR variant g.9798848G>A. Among intronic mutations, highest (~15 fold) increase in breast cancer risk was associated with g.9793680G>A ( p  < 0.009). Similarly ~14-fold increased risk was associated with Val159Gly ( p  < 0.01), ~17-fold with Gly221Arg ( p  < 0.005), and ~18-fold with Ser326Cys ( p  < 0.004) in breast cancer patients compared with controls, whereas analysis of nonsense mutation showed that ~13-fold ( p  < 0.01) increased breast cancer risk was associated with Trp375STOP in patients compared to controls. In conclusion, a significant association was observed between OGG1 germ line mutations and breast cancer risk. These findings provide evidence that OGG1 may prove to be a good candidate of better diagnosis, treatment, and prevention of breast cancer.

OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data