TY - JOUR A1 - Ju, Young Seok A1 - Tubio, Jose M.C. A1 - Mifsud, William A1 - Fu, Beiyuan A1 - Davies, Helen R. A1 - Ramakrishna, Manasa A1 - Li, Yilong A1 - Yates, Lucy A1 - Gundem, Gunes A1 - Tarpey, Patrick S. A1 - Behjati, Sam A1 - Papaemmanuil, Elli A1 - Martin, Sancha A1 - Fullam, Anthony A1 - Gerstung, Moritz A1 - ICGC Prostate Cancer Working Group A1 - ICGC Bone Cancer Working Group A1 - ICGC Breast Cancer Working Group A1 - Nangalia, Jyoti A1 - Green, Anthony R. A1 - Caldas, Carlos A1 - Borg, Åke A1 - Tutt, Andrew A1 - Lee, Ming Ta Michael A1 - van't Veer, Laura J. A1 - Tan, Benita K.T. A1 - Aparicio, Samuel A1 - Span, Paul N. A1 - Martens, John W.M. A1 - Knappskog, Stian A1 - Vincent-Salomon, Anne A1 - Børresen-Dale, Anne-Lise A1 - Eyfjörd, Jórunn Erla A1 - Myklebost, Ola A1 - Flanagan, Adrienne M. A1 - Foster, Christopher A1 - Neal, David E. A1 - Cooper, Colin A1 - Eeles, Rosalind A1 - Bova, G. Steven A1 - Lakhani, Sunil R. A1 - Desmedt, Christine A1 - Thomas, Gilles A1 - Richardson, Andrea L. A1 - Purdie, Colin A. A1 - Thompson, Alastair M. A1 - McDermott, Ultan A1 - Yang, Fengtang A1 - Nik-Zainal, Serena A1 - Campbell, Peter J. A1 - Stratton, Michael R. T1 - Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells Y1 - 2015/06/01 JF - Genome Research JO - Genome Research SP - 814 EP - 824 DO - 10.1101/gr.190470.115 VL - 25 IS - 6 UR - http://genome.cshlp.org/content/25/6/814.abstract N2 - Mitochondrial genomes are separated from the nuclear genome for most of the cell cycle by the nuclear double membrane, intervening cytoplasm, and the mitochondrial double membrane. Despite these physical barriers, we show that somatically acquired mitochondrial-nuclear genome fusion sequences are present in cancer cells. Most occur in conjunction with intranuclear genomic rearrangements, and the features of the fusion fragments indicate that nonhomologous end joining and/or replication-dependent DNA double-strand break repair are the dominant mechanisms involved. Remarkably, mitochondrial-nuclear genome fusions occur at a similar rate per base pair of DNA as interchromosomal nuclear rearrangements, indicating the presence of a high frequency of contact between mitochondrial and nuclear DNA in some somatic cells. Transmission of mitochondrial DNA to the nuclear genome occurs in neoplastically transformed cells, but we do not exclude the possibility that some mitochondrial-nuclear DNA fusions observed in cancer occurred years earlier in normal somatic cells. ER -