Article
Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.
eLife - 1 Oct 2014
Ju Young Seok, Alexandrov Ludmil B, Gerstung Moritz, Martincorena Inigo, Nik-Zainal Serena, Ramakrishna Manasa, Davies Helen R, Papaemmanuil Elli, Gundem Gunes, Shlien Adam, Bolli Niccolo, Behjati Sam, Tarpey Patrick S, Nangalia Jyoti, Massie Charles E, Butler Adam P, Teague Jon W, Vassiliou George S, Green Anthony R, Du Ming-Qing, Unnikrishnan Ashwin, Pimanda John E, Teh Bin Tean, Munshi Nikhil, Greaves Mel, Vyas Paresh, El-Naggar Adel K, Santarius Tom, Collins V Peter, Grundy Richard, Taylor Jack A, Hayes D Neil, Malkin David, Foster Christopher S, Warren Anne Y, Whitaker Hayley C, Brewer Daniel, Eeles Rosalind, Cooper Colin, Neal David, Visakorpi Tapio, Isaacs William B, Bova G Steven, Flanagan Adrienne M, Futreal P Andrew, Lynch Andy G, Chinnery Patrick F, McDermott Ultan, Stratton Michael R, Campbell Peter J
Abstract excerpt
Recent sequencing studies have extensively explored the somatic alterations present in the nuclear genomes of cancers. Although mitochondria control energy metabolism and apoptosis, the origins and impact of cancer-associated mutations in mtDNA are unclear. In this study, we analyzed somatic alterations in mtDNA from 1675 tumors. We identified 1907 somatic substitutions, which exhibited dramatic replicative...
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