title: A novel polymorphic repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is not associated with the risk of developing breast or endometrial cancer.
abstract: BACKGROUND
  The estrogen-induced gene 121 (EIG121) has been associated with breast and endometrial cancers, but its mechanism of action remains unknown. In a genome-wide search for tandem repeats, we found that EIG121 contains a short tandem repeat (STR) in its upstream regulatory region which has the potential to alter gene expression. The presence of this STR has not previously been analysed in relation to breast or endometrial cancer risk.
  
  
  RESULTS
  In this study, the lengths of this STR were determined by PCR, fragment analysis and sequencing using DNA from 223 breast cancer patients, 204 endometrial cancer patients and 220 healthy controls to determine if they were associated with the risk of developing breast or endometrial cancer. We found this repeat to be highly variable with the number of copies of the AG motif ranging from 27 to 72 and having a bimodal distribution. No statistically significant association was identified between the length of this STR and the risk of developing breast or endometrial cancer or age at diagnosis.
  
  
  CONCLUSIONS
  The STR in the upstream regulatory region of EIG121 is highly polymorphic, but is not associated with the risk of developing breast or endometrial cancer in the cohorts analysed here. While this polymorphic STR in the regulatory region of EIG121 appears to have no impact on the risk of developing breast or endometrial cancer, its association with disease recurrence or overall survival remains to be determined.
authors.affiliation: Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine, Hunter Medical Research Institute, Newcastle, NSW, Australia.|Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, NSW, Australia.
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Bolton
authors.affiliation: Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, Faculty of Health and Medicine, University of Newcastle, Newcastle, NSW, Australia.|Clinical Research Design, IT and Statistical Support Unit, Hunter Medical Research Institute, Newcastle, NSW, Australia.
authors.forename: Elizabeth G
authors.initials: EG
authors.lastname: Holliday
authors.affiliation: Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, Faculty of Health and Medicine, University of Newcastle, Newcastle, NSW, Australia.|Clinical Research Design, IT and Statistical Support Unit, Hunter Medical Research Institute, Newcastle, NSW, Australia.
authors.forename: John
authors.initials: J
authors.lastname: Attia
authors.affiliation: Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine, Hunter Medical Research Institute, Newcastle, NSW, Australia.|Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, NSW, Australia.
authors.forename: Nikola A
authors.initials: NA
authors.lastname: Bowden
authors.affiliation: Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine, Hunter Medical Research Institute, Newcastle, NSW, Australia.|Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, NSW, Australia.
authors.forename: Kelly A
authors.initials: KA
authors.lastname: Avery-Kiejda
authors.affiliation: Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine, Hunter Medical Research Institute, Newcastle, NSW, Australia. rodney.scott@newcastle.edu.au.|Priority Research Centre for Cancer, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Newcastle, NSW, Australia. rodney.scott@newcastle.edu.au.|Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, NSW, Australia. rodney.scott@newcastle.edu.au.|Head of the Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, University Drive, Callaghan, NSW, 2308, Australia. rodney.scott@newcastle.edu.au.
authors.forename: Rodney J
authors.initials: RJ
authors.lastname: Scott
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000235:genetics*; D004967:Estrogens / Q000502:physiology*; D005260:Female; D005786:Gene Expression Regulation / Q000502:physiology; D020022:Genetic Predisposition to Disease; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D018895:Microsatellite Repeats; D008875:Middle Aged; D009363:Neoplasm Proteins; D011110:Polymorphism, Genetic; D012045:Regulatory Sequences, Nucleic Acid
chemical_list: C491832:ELAPOR1 protein, human; D004967:Estrogens; D008565:Membrane Proteins; D009363:Neoplasm Proteins
keywords: Breast cancer; Cancer risk; EIG121; Endometrial cancer; KIAA1324; Microsatellites; Regulatory region; STR; Short tandem repeats