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Serena Nik-Zainal
National Health Service
CancerGermline mutationAPOBECTobacco smokeBiology
7Publications
2H-index
257Citations
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Publications 47
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#1Serena Nik-ZainalH-Index: 2
#1Serena Nik-ZainalH-Index: 39
Last. Michael R. StrattonH-Index: 139
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In the Methods section of this Article, 'greater than' should have been 'less than' in the sentence 'Putative regions of clustered rearrangements were identified as having an average inter-rearrangement distance that was at least 10 times greater than the whole-genome average for the individual sample. '. The Article has not been corrected.
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2 CitationsSource
#1Serena Nik-Zainal (Wellcome Trust Sanger Institute)H-Index: 39
A cancer genome is an historical account of the mutagenic activity that has occurred throughout the development of the tumour. Indeed, every mutation matters. While driver mutations were the main focus of cancer research for a long time, passenger mutational signatures, the imprints of DNA damage and DNA repair processes that have been operative during tumorigenesis, are also biologically informative. We previously outlined the methods for identifying and quantifying base substitution mutational...
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#1Serena Nik-Zainal (Wellcome Trust Sanger Institute)H-Index: 39
A cancer genome is a historical account of the mutagenic activity that has occurred throughout the development of the tumor. Indeed, every mutation matters. While driver mutations were the main focus of cancer research for a long time, passenger mutational signatures, the imprints of DNA damage and DNA repair processes that have been operative during tumorigenesis, are also biologically informative (1-5). We previously outlined the methods for identifying and quantifying base substitution mutati...
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#1Serena Nik-ZainalH-Index: 39
#2H. R. DaviesH-Index: 6
Last. Sandro MorganellaH-Index: 14
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#1A. VolkerH-Index: 46
#2Jill E. KucabH-Index: 9
Last. David H. PhillipsH-Index: 72
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#1Dominik GlodzikH-Index: 9
#2Sandro MorganellaH-Index: 14
Last. Serena Nik-ZainalH-Index: 39
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Somatic rearrangements are a part of mutational landscape of human cancer genomes. We systematically investigated the distribution of the somatic rearrangements in 560 breast cancer genomes and highlight 33 rearrangement hotspots associated with a signature of Homologous Recombinational repair deficiency, characterized mainly by large (>100kb) tandem duplications. Remarkably, these tandem duplication hotspots are enriched for breast cancer germline susceptibility loci (OR 4.28) and breast-specif...
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#1Ilias Georgakopoulos-Soares (Wellcome Trust Sanger Institute)H-Index: 2
#2Sandro Morganella (Wellcome Trust Sanger Institute)H-Index: 14
Last. Serena Nik-Zainal (Wellcome Trust Sanger Institute)H-Index: 39
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Somatic mutations show variation in density across cancer genomes. Previous studies have shown that chromatin organization and replication time domains are correlated with and thus predictive of this variation. Here, we analyse 1,809 whole-genome sequences from nine cancer types to show that a subset of repetitive DNA sequences called non-B motifs that predict non-canonical secondary structure formation can independently account for variation in mutation density. However, combined with epigeneti...
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#1Serena Nik-Zainal (Wellcome Trust Sanger Institute)H-Index: 39
Mutational signatures are the imprints of the biological processes that have gone awry in human cells. We previously outlined the methods for identifying and quantifying base substitution mutational signatures present in primary human cancers (http://cancer.sanger.ac.uk/cosmic/signatures). Here, using a highly-curated cohort of 560 whole genome sequenced breast cancers, we extend the understanding of mutational signatures to include six novel rearrangement signatures. Diving into the detail of i...
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