دورية أكاديمية
A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers
| العنوان: | A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers |
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| المؤلفون: | Glodzik, D. (Dominik), Morganella, S. (Sandro), Davies, H. (Helen), Simpson, P.T. (Peter T.), Li, Y. (Yilong), Zou, X. (Xueqing), Diez-Perez, J. (Javier), Staaf, J. (Johan), Alexandrov, L.B. (Ludmil), Smid, M. (Marcel), Brinkman, A.B. (Arie B.), Rye, I.H. (Inga Hansine), Russnes, H. (Hege), Raine, (Keiran), Purdie, C.A. (Colin A.), Lakhani, S. (Sunil), Thompson, A.M. (Alastair M.), Birney, E. (Ewan), Stunnenberg, H. (Henk), Vijver, M.J. (Marc ), Martens, J.W.M. (John), Borresen-Dale, A.-L. (Anne-Lise), Richardson, A.L. (Andrea), Kong, G. (Gu), Viari, A. (Alain), Easton, D.F. (Douglas), Evan, G. (Gerard), Campbell, P.J. (Peter), Stratton, M.R. (Michael R.), Nik-Zainal, S. (Serena) |
| المصدر: | Nature Genetics vol. 49 no. 3, pp. 341-348 |
| سنة النشر: | 2017 |
| المجموعة: | RePub - Publications from Erasmus University, Rotterdam |
| الوصف: | 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 'super-enhancer' regulatory elements (OR = 3.54). These hotspots may be |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | info:eu-repo/grantAgreement/EC/FP7/242006; http://repub.eur.nl/pub/108539Test; urn:hdl:1765/108539 |
| DOI: | 10.1038/ng.3771 |
| الإتاحة: | https://doi.org/10.1038/ng.3771Test http://repub.eur.nl/pub/108539Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.C9E5AA66 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/ng.3771 |
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