A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers.
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ABSTRACT:
SUBMITTER: Glodzik D
PROVIDER: S-EPMC5988034 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Publications
A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers.
Glodzik Dominik D Morganella Sandro S Davies Helen H Simpson Peter T PT Li Yilong Y Zou Xueqing X Diez-Perez Javier J Staaf Johan J Alexandrov Ludmil B LB Smid Marcel M Brinkman Arie B AB Rye Inga Hansine IH Russnes Hege H Raine Keiran K Purdie Colin A CA Lakhani Sunil R SR Thompson Alastair M AM Birney Ewan E Stunnenberg Hendrik G HG van de Vijver Marc J MJ Martens John W M JW Børresen-Dale Anne-Lise AL Richardson Andrea L AL Kong Gu G Viari Alain A Easton Douglas D Evan Gerard G Campbell Peter J PJ Stratton Michael R MR Nik-Zainal Serena S
Nature genetics 20170123 3
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 breast cancer germline susceptibility loci (odds ratio (OR) = 4.28) and breast-specific ...[more]
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