Journal of Cancer Research and Clinical Oncology

, Volume 137, Issue 4, pp 669–675

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
Original Paper

DOI: 10.1007/s00432-010-0912-x

Cite this article as:
Shen, L., Wei, J., Chen, T. et al. J Cancer Res Clin Oncol (2011) 137: 669. doi:10.1007/s00432-010-0912-x

Abstract

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.

Keywords

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

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Lijun Shen
    • 1
  • Jia Wei
    • 1
  • Tao Chen
    • 1
  • Jing He
    • 1
  • Jianchun Qu
    • 1
  • Xiumei He
    • 1
  • Luxi Jiang
    • 1
  • Yemin Qu
    • 1
  • Hezhi Fang
    • 1
  • Guorong Chen
    • 2
  • Jianxin Lu
    • 1
  • Yidong Bai
    • 1
    • 3
  1. 1.Zhejiang Provincial Key Laboratory of Medical GeneticsWenzhou Medical CollegeWenzhouChina
  2. 2.Department of Pathology of the First Affiliated HospitalWenzhou Medical CollegeWenzhouChina
  3. 3.Department of Cellular and Structural BiologyUniversity of Texas Health Science Center at San AntonioSan AntonioUSA