title: Prevalence of ATM Sequence Variants in Northern Plains American Indian Cancer Patients.
abstract: OBJECTIVE
  To identify sequence variants of the ataxia telangiectasia mutated (ATM) gene and establish their prevalence rate among American Indian (AI) as compared with non-AI cancer patients.
  
  
  METHODS
  DNA was isolated from blood samples collected from 100 AI and 100 non-AI cancer patients undergoing radiation therapy, and a blinded assessment of the ATM sequence was conducted. Quantitative PCR assessment of copy number for each exon was also performed. The main outcome measure was the prevalence of ATM variants in the two patient populations.
  
  
  RESULTS
  No statistically significant differences for total prevalence of ATM variants among AI and non-AI patients were found. Of the 25 variants identified, 5 variants had a prevalence of >2%, of which 4 occurred at a rate of >5% in one or both groups. The prevalence of these four variants could meaningfully be compared between the two groups. The only statistically significant difference among the groups was the c.4138C > T variant which is predicted not to affect protein function, seen in 8% of AI versus 0% of non-AI patients (P = 0.007). No exonic copy number changes were found in these patients.
  
  
  CONCLUSIONS
  This study is the first to determine the prevalence of ATM variants in AIs.
authors.affiliation: Rapid City Regional Hospital, John T. Vucurevich Cancer Care Institute , Rapid City, SD , USA ; Department of Human Oncology, University of Wisconsin School of Medicine and Public Health , Madison, WI , USA.
authors.forename: Daniel G
authors.initials: DG
authors.lastname: Petereit
authors.affiliation: Department of Human Oncology, University of Wisconsin School of Medicine and Public Health , Madison, WI , USA.
authors.forename: L Jennifer
authors.initials: LJ
authors.lastname: Hahn
authors.affiliation: Rapid City Regional Hospital, John T. Vucurevich Cancer Care Institute , Rapid City, SD , USA.
authors.forename: Shalini
authors.initials: S
authors.lastname: Kanekar
authors.affiliation: Rapid City Regional Hospital, John T. Vucurevich Cancer Care Institute , Rapid City, SD , USA.
authors.forename: Amy
authors.initials: A
authors.lastname: Boylan
authors.affiliation: Department of Human Oncology, University of Wisconsin School of Medicine and Public Health , Madison, WI , USA.
authors.forename: Søren M
authors.initials: SM
authors.lastname: Bentzen
authors.affiliation: Department of Human Oncology, University of Wisconsin School of Medicine and Public Health , Madison, WI , USA.
authors.forename: Mark
authors.initials: M
authors.lastname: Ritter
authors.affiliation: Department of Human Oncology, University of Wisconsin School of Medicine and Public Health , Madison, WI , USA.
authors.forename: Amy R
authors.initials: AR
authors.lastname: Moser
keywords: ATM variants; American Indians; radiogenomics; radiosensitivity