title: [Roles of mitochondrial DNA somatic mutations in the pathogenesis of benign breast disease: a perspective from whole genome study].
abstract: OBJECTIVE
  To explore the potential roles of mitochondrial DNA somatic mutations in benign breast disease based on the entire genome of mitochondrial DNA and elucidate the relationship between benign breast disease and breast cancer.
  
  
  METHODS
  The genomic DNA of tumor tissue and peripheral blood in 28 benign breast disease patients with an average age of 33 years (range: 30 - 50) were extracted respectively. According to the revised Cambridge reference sequence and phylogenetic tree reconstruction, the mutations were identified and distinction was made between somatic mutations and private mitochondrial DNA mutations by haplogroup.
  
  
  RESULTS
  Seven somatic mutations were detected. One mutation was located in the control region whereas the other six lied in the coding region. Further analyses revealed that, out of these 6 coding-region mutations, 4 were non-synonymous and would introduce the changes of amino acids.
  
  
  CONCLUSIONS
  The mutations of mitochondrial DNA may play potential roles in the occurrence and development of benign breast disease.
authors.affiliation: Department of Breast Disease, Kunming Medical University, Kunming, China. yangyue7153@sina.com.cn
authors.forename: Yue
authors.initials: Y
authors.lastname: Yang
authors.forename: Shuo
authors.initials: S
authors.lastname: Mei
authors.forename: Jun-dong
authors.initials: JD
authors.lastname: He
authors.forename: Xue-jun
authors.initials: XJ
authors.lastname: Guo
authors.forename: Yan-hua
authors.initials: YH
authors.lastname: Che
authors.forename: Yong
authors.initials: Y
authors.lastname: Zhang
authors.forename: Li
authors.initials: L
authors.lastname: Li
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005348:Fibrocystic Breast Disease / Q000235:genetics* / Q000473:pathology; D054629:Genome, Mitochondrial; D006801:Humans; D008875:Middle Aged; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial; D004273:DNA, Neoplasm