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Disease Markers
Volume 2015 (2015), Article ID 690878, 16 pages
Research Article

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

1Cancer Genetics Laboratory, Department of Biosciences, COMSATS Institute of Information Technology, Park Road, Chak Shahzad, Islamabad 44000, Pakistan
2Nuclear Medicine Oncology & Radiotherapy Institute (NORI), Islamabad 44000, Pakistan

Received 5 January 2015; Accepted 9 April 2015

Academic Editor: Holly Soares

Copyright © 2015 Kashif Ali et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 () 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 (). Similarly ~14-fold increased risk was associated with Val159Gly (), ~17-fold with Gly221Arg (), and ~18-fold with Ser326Cys () in breast cancer patients compared with controls, whereas analysis of nonsense mutation showed that ~13-fold () 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.