title: Evaluating mitochondrial DNA in patients with breast cancer and benign breast disease.
abstract: OBJECTIVE
  To evaluate the role of mtDNA in breast cancer.
  
  
  METHODS
  We carried out an investigation into the mtDNA major control region or D-loop region and an essential and the largest mtDNA protein-coding gene, NADH dehydrogenase subunit 5 (ND5), together with a mitochondrial haplogroup analysis in 64 patients with breast cancer (BC) and 54 patients with benign breast disease (BBD) as controls.
  
  
  RESULTS
  Mutations in D-loop region were found in 10/64 or 15.6% of patients with BC and 14/54 or 25.9% of patients with BBD, while mutations in ND5 were detected in 6/64 or 9.4% of patients with BC and 5/54 or 9.3% of patients with BBD. In addition, in patients with BBD, mtDNA mutations were more likely to rise in D-loop region and the mutations were more likely to be heteroplasmic. However, in patients with BC, those with metastatic feature were less likely to carry mutations in D-loop region. Finally, we found haplogroup M has an increased risk of breast cancer compared with haplogroup N.
  
  
  CONCLUSIONS
  mtDNA mutation may play a role in early stage of tumorigenesis, and mitochondrial haplogroup can also modulate breast cancer occurrence.
authors.affiliation: Zhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical College, Wenzhou 325000, China.
authors.forename: Lijun
authors.initials: L
authors.lastname: Shen
authors.forename: Jia
authors.initials: J
authors.lastname: Wei
authors.forename: Tao
authors.initials: T
authors.lastname: Chen
authors.forename: Jing
authors.initials: J
authors.lastname: He
authors.forename: Jianchun
authors.initials: J
authors.lastname: Qu
authors.forename: Xiumei
authors.initials: X
authors.lastname: He
authors.forename: Luxi
authors.initials: L
authors.lastname: Jiang
authors.forename: Yemin
authors.initials: Y
authors.lastname: Qu
authors.forename: Hezhi
authors.initials: H
authors.lastname: Fang
authors.forename: Guorong
authors.initials: G
authors.lastname: Chen
authors.forename: Jianxin
authors.initials: J
authors.lastname: Lu
authors.forename: Yidong
authors.initials: Y
authors.lastname: Bai
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001941:Breast Diseases / Q000235:genetics*; D001943:Breast Neoplasms / Q000209:etiology / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000235:genetics; D005260:Female; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I