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

L Shen, J Wei, T Chen, J He, J Qu, X He… - Journal of cancer …, 2011 - Springer
L Shen, J Wei, T Chen, J He, J Qu, X He, L Jiang, Y Qu, H Fang, G Chen, J Lu, Y Bai
Journal of cancer research and clinical oncology, 2011Springer
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 …
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.
Springer