RT Journal
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
JF Genome Research 
JO Genome Research 
YR 2015 
FD June 01 
VO 25 
IS 6 
SP 814 
OP 824 
DO 10.1101/gr.190470.115 
UL http://genome.cshlp.org/content/25/6/814.abstract 
AB 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.