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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Comprehensive molecular characterization of mitochondrial genomes in human cancers


  • Yuan Yuan
  • Young Seok Ju
  • Youngwook Kim
  • Jun Li
  • Yumeng Wang
  • Christopher J Yoon
  • Yang Yang
  • Inigo Martincorena
  • Chad J Creighton
  • John N Weinstein
  • Yanxun Xu
  • Leng Han
  • Hyung-Lae Kim
  • Hidewaki Nakagawa
  • Keunchil Park
  • Peter J Campbell
  • Han Liang

Other contributions

  • Åke Borg
  • Markus Ringnér
  • Johan Staaf

Summary, in English

Mitochondria are essential cellular organelles that play critical roles in cancer. Here, as part of the International Cancer Genome Consortium/The Cancer Genome Atlas Pan-Cancer Analysis of Whole Genomes Consortium, which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumor types, we performed a multidimensional, integrated characterization of mitochondrial genomes and related RNA sequencing data. Our analysis presents the most definitive mutational landscape of mitochondrial genomes and identifies several hypermutated cases. Truncating mutations are markedly enriched in kidney, colorectal and thyroid cancers, suggesting oncogenic effects with the activation of signaling pathways. We find frequent somatic nuclear transfers of mitochondrial DNA, some of which disrupt therapeutic target genes. Mitochondrial copy number varies greatly within and across cancers and correlates with clinical variables. Co-expression analysis highlights the function of mitochondrial genes in oxidative phosphorylation, DNA repair and the cell cycle, and shows their connections with clinically actionable genes. Our study lays a foundation for translating mitochondrial biology into clinical applications.


  • LUCC: Lund University Cancer Centre
  • Familial Breast Cancer
  • Breastcancer-genetics
  • Molecular Cell Biology
  • Breast/lungcancer
  • Division of Translational Cancer Research
  • Research Group Lung Cancer

Publishing year







Nature Genetics





Document type

Journal article


Nature Publishing Group


  • Medical Genetics


  • Cell Cycle/genetics
  • DNA Copy Number Variations
  • DNA Repair/genetics
  • DNA, Mitochondrial/genetics
  • Genome, Human/genetics
  • Genome, Mitochondrial/genetics
  • Humans
  • Mutation
  • Neoplasms/genetics
  • Oxidative Phosphorylation
  • Sequence Analysis, RNA
  • Whole Genome Sequencing



Research group

  • Familial Breast Cancer
  • Research Group Lung Cancer


  • ISSN: 1546-1718