Evaluating mitochondrial DNA in patients with breast cancer and benign breast disease

Lijun Shen, Jia Wei, Tao Chen, Jing He, Jianchun Qu, Xiumei He, Luxi Jiang, Yemin Qu, Hezhi Fang, Guorong Chen, Jianxin Lu, Yidong Bai

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


Purpose: 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. Conclusion: mtDNA mutation may play a role in early stage of tumorigenesis, and mitochondrial haplogroup can also modulate breast cancer occurrence.

Original languageEnglish (US)
Pages (from-to)669-675
Number of pages7
JournalJournal of Cancer Research and Clinical Oncology
Issue number4
StatePublished - Apr 2011


  • Breast cancer
  • D-loop region
  • Heteroplasmy
  • Mitochondrial DNA mutation
  • Mitochondrial haplogroup

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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