articleNature GeneticsFeb 5, 2020HYBRID OA

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

BRBernardo Rodríguez–MartínEGEva G. AlvarezABAdrian Baez‐OrtegaJZJorge ZamoraFSFran Supek

Universidade de Santiago de Compostela · Center for Research in Molecular Medicine and Chronic Diseases · +77 more institutions

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Abstract

About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from 38 histological cancer subtypes within the framework of the Pan-Cancer Analysis of Whole Genomes (PCAWG) project. We identified 19,166 somatically acquired retrotransposition events, which affected 35% of samples and spanned a range of event types. Long interspersed nuclear element (LINE-1; L1 hereafter) insertions emerged as the first most frequent type of somatic structural variation in esophageal adenocarcinoma, and the second most frequent in head-and-neck and colorectal cancers. Aberrant…

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Topics & keywords

Topics
Keywords
  • Biology
  • Retrotransposon
  • Genome
  • Genetics
  • Computational biology
  • Line (geometry)
  • Evolutionary biology
  • Gene
UN Sustainable Development Goals
  • Good health and well-being
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