title: OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data.
abstract: 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.
authors.affiliation: Cancer Genetics Laboratory, Department of Biosciences, COMSATS Institute of Information Technology, Park Road, Chak Shahzad, Islamabad 44000, Pakistan.
authors.forename: Kashif
authors.initials: K
authors.lastname: Ali
authors.affiliation: Cancer Genetics Laboratory, Department of Biosciences, COMSATS Institute of Information Technology, Park Road, Chak Shahzad, Islamabad 44000, Pakistan.
authors.forename: Ishrat
authors.initials: I
authors.lastname: Mahjabeen
authors.affiliation: Cancer Genetics Laboratory, Department of Biosciences, COMSATS Institute of Information Technology, Park Road, Chak Shahzad, Islamabad 44000, Pakistan.
authors.forename: Maimoona
authors.initials: M
authors.lastname: Sabir
authors.affiliation: Nuclear Medicine Oncology & Radiotherapy Institute (NORI), Islamabad 44000, Pakistan.
authors.forename: Humera
authors.initials: H
authors.lastname: Mehmood
authors.affiliation: Cancer Genetics Laboratory, Department of Biosciences, COMSATS Institute of Information Technology, Park Road, Chak Shahzad, Islamabad 44000, Pakistan.
authors.forename: Mahmood Akhtar
authors.initials: MA
authors.lastname: Kayani
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D010154:Pakistan
chemical_list: D045647:DNA Glycosylases; C479058:oxoguanine glycosylase 1, human