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.
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.
Authors: Gordon F Schwartz; Kevin S Hughes; Henry T Lynch; Carol J Fabian; Ian S Fentiman; Mark E Robson; Susan M Domchek; Lynn C Hartmann; Roland Holland; David J Winchester Journal: Cancer Date: 2008-11-15 Impact factor: 6.860
Authors: David M Krzywanski; Douglas R Moellering; David G Westbrook; Kimberly J Dunham-Snary; Jamelle Brown; Alexander W Bray; Kyle P Feeley; Melissa J Sammy; Matthew R Smith; Theodore G Schurr; Joseph A Vita; Namasivayam Ambalavanan; David Calhoun; Louis Dell'Italia; Scott W Ballinger Journal: Circ Cardiovasc Genet Date: 2016-01-19