期刊
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
卷 137, 期 4, 页码 669-675出版社
SPRINGER
DOI: 10.1007/s00432-010-0912-x
关键词
Mitochondrial DNA mutation; Mitochondrial haplogroup; D-loop region; Heteroplasmy; Breast cancer
类别
资金
- NIH [R01 AG025223]
To evaluate the role of mtDNA in breast cancer. 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. 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. mtDNA mutation may play a role in early stage of tumorigenesis, and mitochondrial haplogroup can also modulate breast cancer occurrence.
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