title: Mutations of mitochondrial DNA as potential biomarkers in breast cancer.
abstract: BACKGROUND
  Alterations of mitochondrial DNA (mtDNA) have been found in cancer patients, therefore informative mtDNA mutations could serve as biomarkers for the disease.
  
  
  METHODS
  The two hypervariable regions HVR1 and HVR2 in the D-Loop region were sequenced in ten paired tissue and plasma samples from breast cancer patients.
  
  
  RESULTS
  MtDNA mutations were found in all patients' samples, suggesting a 100% detection rate. Examining germline mtDNA mutations, a total of 85 mutations in the D-loop region were found; 31 of these mutations were detected in both tissues and matched plasma samples, the other 54 germline mtDNA mutations were found only in the plasma samples. Regarding somatic mtDNA mutations, a total of 42 mutations in the D-loop region were found in breast cancer tissues.
  
  
  CONCLUSIONS
  Somatic mtDNA mutations in the D-loop region were detected in breast cancer tissues but not in the matched plasma samples, suggesting that more sensitive methods will be needed for such detection to be of clinical utility.
authors.affiliation: University Women's Hospital, Department of Biomedicine, University of Basel, Hebelstrasse 20, Room 420, Basel, CH 4031, Switzerland.
authors.forename: Feng Feng
authors.initials: FF
authors.lastname: Cai
authors.forename: Corina
authors.initials: C
authors.lastname: Kohler
authors.forename: Bei
authors.initials: B
authors.lastname: Zhang
authors.forename: Wei Jie
authors.initials: WJ
authors.lastname: Chen
authors.forename: Zeinab
authors.initials: Z
authors.lastname: Barekati
authors.forename: Henk S P
authors.initials: HS
authors.lastname: Garritsen
authors.forename: Per
authors.initials: P
authors.lastname: Lenner
authors.forename: Paolo
authors.initials: P
authors.lastname: Toniolo
authors.forename: Jing Jie
authors.initials: JJ
authors.lastname: Zhang
authors.forename: Xiao Yan
authors.initials: XY
authors.lastname: Zhong
mesh_terms: D000368:Aged; D014408:Biomarkers, Tumor / Q000378:metabolism*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000378:metabolism; D017931:DNA Primers / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D008928:Mitochondria / Q000378:metabolism; D009154:Mutation; D017434:Protein Structure, Tertiary
chemical_list: D014408:Biomarkers, Tumor; D017931:DNA Primers; D004272:DNA, Mitochondrial; D004247:DNA