Detecting the somatic mutations spectrum of Chinese lung cancer by analyzing the whole mitochondrial DNA genomes

Mitochondrial DNA. 2015 Feb;26(1):56-60. doi: 10.3109/19401736.2013.823168. Epub 2013 Sep 6.


To detect the somatic mutations and character its spectrum in Chinese lung cancer patients. In this study, we sequenced the whole mitochondrial DNA (mtDNA) genomes for 10 lung cancer patients including the primary cancerous, matched paracancerous normal and distant normal tissues. By analyzing the 30 whole mtDNA genomes, eight somatic mutations were identified from five patients investigated, which were confirmed with the cloning and sequencing of the somatic mutations. Five of the somatic mutations were detected among control region and the rests were found at the coding region. Heterogeneity was the main character of the somatic mutations in Chinese lung cancer patients. Further potential disease-related screening showed that, except the C deletion at position 309 showed AD-weakly associated, most of them were not disease-related. Although the role of aforementioned somatic mutations was unknown, however, considering the relative higher frequency of somatic mutations among the whole mtDNA genomes, it hints that detecting the somatic mutation(s) from the whole mtDNA genomes can serve as a useful tool for the Chinese lung cancer diagnostic to some extent.

Keywords: Lung cancer; somatic mutation; whole mitochondrial DNA genome.

MeSH terms

  • Asian People / genetics*
  • China
  • DNA, Mitochondrial
  • Genome, Mitochondrial*
  • Haplotypes
  • Humans
  • Lung Neoplasms / genetics*
  • Mutation*
  • Phylogeny
  • Sequence Analysis, DNA


  • DNA, Mitochondrial