title: Association of DNA Repair Gene APE1 Asp148Glu Polymorphism with Breast Cancer Risk.
abstract: OBJECTIVE
  The aim of this study was to investigate the role of APE1 Asp148Glu polymorphism in breast cancer progression in Saudi population.
  
  
  METHODS
  We examined the genetic variations (rs1130409) in the DNA base excision repair gene APE1 at codon 148 (Asp148Glu) and its association with breast cancer risk using genotypic assays and in silico structural as well as functional predictions. In silico structural analysis was performed with Asp148Glu allele and compared with the predicted native protein structure. The wild and mutant 3D structures of APE1 were compared and analyzed using solvent accessibility models for protein stability confirmation.
  
  
  RESULTS
  Genotypic analysis of APE1 (rs1130409) showed statistically significant association of Asp148Glu with elevated susceptibility to breast cancer. The in silico analysis results indicated that the nsSNP Asp148Glu may cause changes in the protein structure and is associated with breast cancer risk.
  
  
  CONCLUSIONS
  Taken together, this is the first report that established that Asp148Glu variant has structural and functional effect on the APE1 and may play an important role in breast cancer progression in Saudi population.
authors.affiliation: Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.
authors.forename: Fatima
authors.initials: F
authors.lastname: AlMutairi
authors.affiliation: Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia ; Integrated Gulf Biosystems, Riyadh 11391, Saudi Arabia.
authors.forename: Akbar Ali Khan
authors.initials: AA
authors.lastname: Pathan
authors.affiliation: Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Alanazi
authors.affiliation: Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia ; Genetic Engineering and Biotechnology Research Institute (GEBRI), City for Scientific Research and Technology Applications, Alexandria 21934, Egypt.
authors.forename: Manal
authors.initials: M
authors.lastname: Shalaby
authors.affiliation: The Comprehensive Cancer Center, King Fahad Medical City, Riyadh 11525, Saudi Arabia.
authors.forename: Huda A
authors.initials: HA
authors.lastname: Alabdulkarim
authors.affiliation: Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Alamri
authors.affiliation: Department of Women's Imaging, King Fahad Medical City, Riyadh 11525, Saudi Arabia.
authors.forename: Abdulrahman
authors.initials: A
authors.lastname: Al Naeem
authors.affiliation: Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.
authors.forename: Moammad
authors.initials: M
authors.lastname: Elrobh
authors.affiliation: Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.
authors.forename: Jilani P
authors.initials: JP
authors.lastname: Shaik
authors.affiliation: Department of Basic Sciences, College of Science and Health Professions, King Saud Bin Abdul Aziz University for Health Sciences, Riyadh 11426, Saudi Arabia.
authors.forename: Wajahatullah
authors.initials: W
authors.lastname: Khan
authors.affiliation: Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.
authors.forename: Zahid
authors.initials: Z
authors.lastname: Khan
authors.affiliation: Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.
authors.forename: Narasimha Reddy
authors.initials: NR
authors.lastname: Parine
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D012529:Saudi Arabia
chemical_list: C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase