Article
A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers.
Nature genetics - 1 Mar 2017
Glodzik Dominik, Morganella Sandro, Davies Helen, Simpson Peter T, Li Yilong, Zou Xueqing, Diez-Perez Javier, Staaf Johan, Alexandrov Ludmil B, Smid Marcel, Brinkman Arie B, Rye Inga Hansine, Russnes Hege, Raine Keiran, Purdie Colin A, Lakhani Sunil R, Thompson Alastair M, Birney Ewan, Stunnenberg Hendrik G, van de Vijver Marc J, Martens John W M, Børresen-Dale Anne-Lise, Richardson Andrea L, Kong Gu, Viari Alain, Easton Douglas, Evan Gerard, Campbell Peter J, Stratton Michael R, Nik-Zainal Serena
Abstract excerpt
Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous-recombination-repair deficiency. Notably, these tandem-duplication hotspots were enriched in...
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