Publications by authors named "Serena Nik-Zainal"

88Publications

Transcription-coupled repair and mismatch repair contribute towards preserving genome integrity at mononucleotide repeat tracts.

Nat Commun 2020 04 24;11(1):1980. Epub 2020 Apr 24.

Academic Department of Medical Genetics, The Clinical School, University of Cambridge, Cambridge, CB2 0QQ, UK.

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http://dx.doi.org/10.1038/s41467-020-15901-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181645PMC
April 2020

Mutational signatures: experimental design and analytical framework.

Genome Biol 2020 02 14;21(1):37. Epub 2020 Feb 14.

Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, CB2 0QQ, UK.

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http://dx.doi.org/10.1186/s13059-020-1951-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7023746PMC
February 2020

Holistic cancer genome profiling for every patient.

Swiss Med Wkly 2020 Jan 27;150:w20158. Epub 2020 Jan 27.

MRC Cancer Unit, Hutchison/MRC Research Centre, University of Cambridge, UK / Academic Laboratory of Medical Genetics, Addenbrookes Treatment Centre, Cambridge, UK.

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http://dx.doi.org/10.4414/smw.2020.20158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7043936PMC
January 2020

Cellular survival over genomic perfection.

Science 2019 11;366(6467):802-803

MRC Cancer Unit, University of Cambridge, Hutchison-MRC Research Centre, Cambridge Biomedical Campus, Cambridge, UK.

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http://dx.doi.org/10.1126/science.aax8046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6872451PMC
November 2019

Research culture must be kinder for all, not just royalty.

Nature 2019 11;575(7782):287

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http://dx.doi.org/10.1038/d41586-019-03466-8DOI Listing
November 2019

Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease.

Cold Spring Harb Mol Case Stud 2019 10 23;5(5). Epub 2019 Oct 23.

Department of Medical Genetics, Addenbrooke's Treatment Centre, The Clinical School, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, United Kingdom.

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http://dx.doi.org/10.1101/mcs.a004408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824248PMC
October 2019

A path inspired by people.

Nat Med 2019 09;25(9):1329

CRUK Advanced Clinician Scientist, MRC Cancer Unit and Academic Department of Medical Genetics, The Clinical School, University of Cambridge, Cambridge Biomedical Research Campus, Cambridge, UK.

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http://www.nature.com/articles/s41591-019-0570-8
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http://dx.doi.org/10.1038/s41591-019-0570-8DOI Listing
September 2019

Ductal carcinoma in situ: to treat or not to treat, that is the question.

Br J Cancer 2019 08 9;121(4):285-292. Epub 2019 Jul 9.

Division of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41416-019-0478-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697179PMC
August 2019

A Compendium of Mutational Signatures of Environmental Agents.

Cell 2019 05 11;177(4):821-836.e16. Epub 2019 Apr 11.

Academic Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge CB2 9NB, UK; MRC Cancer Unit, University of Cambridge, Cambridge CB2 0XZ, UK; Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674193026
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http://dx.doi.org/10.1016/j.cell.2019.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506336PMC
May 2019

From genome integrity to cancer.

Genome Med 2019 01 29;11(1). Epub 2019 Jan 29.

Department of Medical Genetics, Addenbrooke's Treatment Centre, The Clinical School, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

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http://dx.doi.org/10.1186/s13073-019-0617-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350375PMC
January 2019

Bullying investigations need a code of conduct.

Nature 2019 01;565(7740):429

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http://dx.doi.org/10.1038/d41586-019-00228-4DOI Listing
January 2019

Author Correction: Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nature 2019 02;566(7742):E1

Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.

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http://www.nature.com/articles/s41586-019-0883-2
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http://dx.doi.org/10.1038/s41586-019-0883-2DOI Listing
February 2019

The duty to speak up.

Nat Cell Biol 2018 Sep;20(9):1006

Department of Medical Genetics, The Clinical School, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/s41556-018-0171-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155444PMC
September 2018

Noncanonical secondary structures arising from non-B DNA motifs are determinants of mutagenesis.

Genome Res 2018 09 13;28(9):1264-1271. Epub 2018 Aug 13.

Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, United Kingdom.

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http://dx.doi.org/10.1101/gr.231688.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120622PMC
September 2018

Validating the concept of mutational signatures with isogenic cell models.

Nat Commun 2018 05 1;9(1):1744. Epub 2018 May 1.

Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK.

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http://dx.doi.org/10.1038/s41467-018-04052-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931590PMC
May 2018

APOBEC3A/B deletion polymorphism and cancer risk.

Carcinogenesis 2018 02;39(2):118-124

Section of Oncology, Department of Clinical Science, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1093/carcin/bgx131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862322PMC
February 2018

Short inverted repeats contribute to localized mutability in human somatic cells.

Nucleic Acids Res 2017 Nov;45(19):11213-11221

Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1093/nar/gkx731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5737083PMC
November 2017

Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.

Science 2017 10 14;358(6360):234-238. Epub 2017 Sep 14.

Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW) and University Medical Center (UMC) Utrecht, 3584CT Utrecht, Netherlands.

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http://dx.doi.org/10.1126/science.aao3130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6038908PMC
October 2017

Mutational Signatures in Breast Cancer: The Problem at the DNA Level.

Clin Cancer Res 2017 Jun;23(11):2617-2629

Wellcome Trust Sanger Institute, Hinxton Genome Campus, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/1078-0432.CCR-16-2810DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458139PMC
June 2017

ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data.

Curr Protoc Bioinformatics 2016 12 8;56:15.9.1-15.9.17. Epub 2016 Dec 8.

Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/cpbi.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097604PMC
December 2016

cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data.

Curr Protoc Bioinformatics 2016 12 8;56:15.10.1-15.10.18. Epub 2016 Dec 8.

Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/cpbi.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097605PMC
December 2016

Familial Adrenocortical Carcinoma in Association With Lynch Syndrome.

J Clin Endocrinol Metab 2016 Jun 4;101(6):2269-72. Epub 2016 May 4.

Metabolic Research Laboratories (B.G.C., N.K., A.S.P., O.K., A.K.A., M.G.), Wellcome Trust-MRC Institute of Metabolic Science, and Departments of Histopathology (L.H., A.J.M.) and Medical Genetics (S.N.-Z.), University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge, UK CB2 0QQ; Division of Pathology (M.J.A.), University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1210/jc.2016-1460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891804PMC
June 2016

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nature 2016 06 2;534(7605):47-54. Epub 2016 May 2.

Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1038/nature17676DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910866PMC
June 2016

VAGrENT: Variation Annotation Generator.

Curr Protoc Bioinformatics 2015 Dec 17;52:15.8.1-15.8.11. Epub 2015 Dec 17.

Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/0471250953.bi1508s52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101192PMC
December 2015

cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing.

Curr Protoc Bioinformatics 2015 Dec 17;52:15.7.1-15.7.12. Epub 2015 Dec 17.

Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/0471250953.bi1507s52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097606PMC
December 2015

Clock-like mutational processes in human somatic cells.

Nat Genet 2015 Dec 9;47(12):1402-7. Epub 2015 Nov 9.

Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, UK.

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http://dx.doi.org/10.1038/ng.3441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4783858PMC
December 2015

A mutational signature in gastric cancer suggests therapeutic strategies.

Nat Commun 2015 Oct 29;6:8683. Epub 2015 Oct 29.

Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

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http://dx.doi.org/10.1038/ncomms9683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918743PMC
October 2015

The genome as a record of environmental exposure.

Mutagenesis 2015 Nov 6;30(6):763-70. Epub 2015 Oct 6.

Analytical and Environmental Sciences Division, MRC-PHE Centre for Environment and Health, King's College London, Franklin-Wilkins Building, London SE1 9NH, UK,

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http://dx.doi.org/10.1093/mutage/gev073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4637815PMC
November 2015

Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue.

Nat Genet 2015 Apr 2;47(4):367-372. Epub 2015 Mar 2.

Urological Research Laboratory, Cancer Research UK Cambridge Research Institute, Cambridge, UK.

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https://ueaeprints.uea.ac.uk/52532/2/39739_3_merged_14193243
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http://www.nature.com/doifinder/10.1038/ng.3221
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http://dx.doi.org/10.1038/ng.3221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380509PMC
April 2015

Insights into cancer biology through next-generation sequencing.

Clin Med (Lond) 2014 Dec;14 Suppl 6:s71-7

Wellcome Trust Sanger Institute, Cambridge, UK, and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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http://dx.doi.org/10.7861/clinmedicine.14-6-s71DOI Listing
December 2014

Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.

Science 2014 Aug;345(6196):1251343

Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.

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http://dx.doi.org/10.1126/science.1251343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380235PMC
August 2014

Mechanisms underlying mutational signatures in human cancers.

Nat Rev Genet 2014 Sep 1;15(9):585-98. Epub 2014 Jul 1.

1] Wellcome Trust Sanger Institute, Hinxton Genome Campus, Cambridge CB10 1SA, UK. [2] East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Trust, Cambridge CB2 2QQ, UK.

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http://dx.doi.org/10.1038/nrg3729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044419PMC
September 2014

Signatures of mutational processes in human cancer.

Nature 2013 Aug 14;500(7463):415-21. Epub 2013 Aug 14.

Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.

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http://dx.doi.org/10.1038/nature12477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776390PMC
August 2013

DNA deaminases induce break-associated mutation showers with implication of APOBEC3B and 3A in breast cancer kataegis.

Elife 2013 Apr 16;2:e00534. Epub 2013 Apr 16.

Protein and Nucleic Acid Chemistry Division , Medical Research Council Laboratory of Molecular Biology , Cambridge , United Kingdom.

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http://dx.doi.org/10.7554/eLife.00534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628087PMC
April 2013

Deciphering signatures of mutational processes operative in human cancer.

Cell Rep 2013 Jan 10;3(1):246-59. Epub 2013 Jan 10.

Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.

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http://dx.doi.org/10.1016/j.celrep.2012.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3588146PMC
January 2013

Estimation of rearrangement phylogeny for cancer genomes.

Genome Res 2012 Feb 12;22(2):346-61. Epub 2011 Oct 12.

Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.

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http://dx.doi.org/10.1101/gr.118414.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3266042PMC
February 2012

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Keipert syndrome: two further cases and review of the literature.

Clin Dysmorphol 2008 Jul;17(3):169-75

Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3282f4afc3DOI Listing
July 2008