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


CONCLUSIONS
mtDNA mutation may play a role in early stage of tumorigenesis, and mitochondrial haplogroup can also modulate breast cancer occurrence.
Shen
Lijun
L
Zhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical College, Wenzhou 325000, China.
Wei
Jia
J
Chen
Tao
T
He
Jing
J
Qu
Jianchun
J
He
Xiumei
X
Jiang
Luxi
L
Qu
Yemin
Y
Fang
Hezhi
H
Chen
Guorong
G
Lu
Jianxin
J
Bai
Yidong
Y
D000293:Adolescent; D000328:Adult; D000368:Aged; D001941:Breast Diseases / Q000235:genetics*; D001943:Breast Neoplasms / Q000209:etiology / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000235:genetics; D005260:Female; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation
D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I