Dr Serena Nik-Zainal | CRUK Advanced Clinician Scientist and Former Wellcome Sanger Institute Group Leader

This person is a member of Sanger Institute Alumni.

Nik-Zainal, Serena

Dr Serena Nik-Zainal left the Wellcome Sanger Institute in 2017 to lead a team in the Academic Department of Medical Genetics with the University of Cambridge (http://medgen.medschl.cam.ac.uk/serena-nik-zainal/). This page is no longer being updated and is being maintained as a historical record of Serena's research at the Sanger Institute.

At the Wellcome Sanger Institute, Serena explored patterns of mutations or "signatures" that arise in human cells to understand how DNA damage and DNA repair processes contribute towards aging and cancer.

Serena was a Career Development Fellow (CDF) Group Leader in the Cancer Genome Project and is an Honorary Consultant in Clinical Genetics at Addenbrooke's Hospital in Cambridge. She pursues biological understanding of the mutational signatures that have been identified in primary human cancers.

Serena qualified in medicine from the University of Cambridge in 2000, trained as a physician and subsequently specialised in Clinical Genetics. She undertook a PhD at the Wellcome Sanger Institute in 2009 with Mike Stratton exploring breast cancer using next-generation sequencing technology.

She demonstrated how detailed downstream analyses of all mutations present in whole-genome sequenced breast cancers could reveal mutation signatures, imprints left by mutagenic processes that have occurred through cancer development. In particular, she identified a novel phenomenon of localised hypermutation termed 'kataegis'.

In 2013, Serena was awarded a Wellcome Trust Intermediate Clinical Fellowship to pursue biological understanding of the signatures identified during her research training. She joined the Sanger Institute Faculty team in 2014 and led the Signatures of mutagenesis in somatic cells group.

Serena continued to hunt for mutation signatures in large cancer datasets using computational approaches. She led the analysis of 560 whole genome sequenced breast cancers, the largest cohort of cancer genomes of a single tissue type to date. Serena explores mutation signatures biologically through cell-based model systems. She leads a clinical project, Insignia (www.mutationsignatures.org), recruiting patients with DNA repair/replication defects, aging syndromes and neurodegeneration, and people who have been exposed to environmental/occupational mutagens to gain biological insights into mutational phenomena in these patients.

She is focused on advancing the field of mutational signatures through computational innovations on the analyses of mutational signatures, through more sophisticated cell-based modelling and she works towards accelerating the translation of mutational signatures into the clinical domain.


  • A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers.

    Glodzik D, Morganella S, Davies H, Simpson PT, Li Y et al.

    Nature genetics 2017;49;3;341-348

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

    Raine KM, Van Loo P, Wedge DC, Jones D, Menzies A et al.

    Current protocols in bioinformatics 2016;56;15.9.1-15.9.17

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

    Jones D, Raine KM, Davies H, Tarpey PS, Butler AP et al.

    Current protocols in bioinformatics 2016;56;15.10.1-15.10.18

  • Breast cancer genome and transcriptome integration implicates specific mutational signatures with immune cell infiltration.

    Smid M, Rodríguez-González FG, Sieuwerts AM, Salgado R, Prager-Van der Smissen WJ et al.

    Nature communications 2016;7;12910

  • Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer.

    Shlien A, Raine K, Fuligni F, Arnold R, Nik-Zainal S et al.

    Cell reports 2016;16;7;2032-46

  • A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

    Ferrari A, Vincent-Salomon A, Pivot X, Sertier AS, Thomas E et al.

    Nature communications 2016;7;12222

  • The topography of mutational processes in breast cancer genomes.

    Morganella S, Alexandrov LB, Glodzik D, Zou X, Davies H et al.

    Nature communications 2016;7;11383

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

    Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D et al.

    Nature 2016;534;7605;47-54

  • Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells.

    Rouhani FJ, Nik-Zainal S, Wuster A, Li Y, Conte N et al.

    PLoS genetics 2016;12;4;e1005932

  • VAGrENT: Variation Annotation Generator.

    Menzies A, Teague JW, Butler AP, Davies H, Tarpey P et al.

    Current protocols in bioinformatics 2015;52;15.8.1-11

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

    Raine KM, Hinton J, Butler AP, Teague JW, Davies H et al.

    Current protocols in bioinformatics 2015;52;15.7.1-12

  • Clock-like mutational processes in human somatic cells.

    Alexandrov LB, Jones PH, Wedge DC, Sale JE, Campbell PJ et al.

    Nature genetics 2015;47;12;1402-7

  • The genome as a record of environmental exposure.

    Nik-Zainal S, Kucab JE, Morganella S, Glodzik D, Alexandrov LB et al.

    Mutagenesis 2015;30;6;763-70

  • Insights into cancer biology through next-generation sequencing.

    Nik-Zainal S

    Clinical medicine (London, England) 2014;14 Suppl 6;s71-7

  • Mechanisms underlying mutational signatures in human cancers.

    Helleday T, Eshtad S and Nik-Zainal S

    Nature reviews. Genetics 2014;15;9;585-98

  • Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer.

    Nik-Zainal S, Wedge DC, Alexandrov LB, Petljak M, Butler AP et al.

    Nature genetics 2014;46;5;487-91

  • Signatures of mutational processes in human cancer.

    Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S et al.

    Nature 2013;500;7463;415-21

  • Deciphering signatures of mutational processes operative in human cancer.

    Alexandrov LB, Nik-Zainal S, Wedge DC, Campbell PJ and Stratton MR

    Cell reports 2013;3;1;246-59

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

    Taylor BJ, Nik-Zainal S, Wu YL, Stebbings LA, Raine K et al.

    eLife 2013;2;e00534

  • The landscape of cancer genes and mutational processes in breast cancer.

    Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C et al.

    Nature 2012;486;7403;400-4

  • The life history of 21 breast cancers.

    Nik-Zainal S, Van Loo P, Wedge DC, Alexandrov LB, Greenman CD et al.

    Cell 2012;149;5;994-1007

  • Mutational processes molding the genomes of 21 breast cancers.

    Nik-Zainal S, Alexandrov LB, Wedge DC, Van Loo P, Greenman CD et al.

    Cell 2012;149;5;979-93

  • Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

    Davies HR, Hodgson K, Schwalbe E, Coxhead J, Sinclair N et al.

    Nature communications 2019;10;1;4717

  • A practical guide for mutational signature analysis in hematological malignancies.

    Maura F, Degasperi A, Nadeu F, Leongamornlert D, Davies H et al.

    Nature communications 2019;10;1;2969

Career/Research Highlights

Nik-Zainal, Serena
Serena's Timeline

CRUK Advanced Clinician Scientist


CRUK Pioneer Award

Inaugural Double Helix Day 2016 : Speaker


William Bate Hardy Prize

CRUK Future Leaders Prize

Insignia project recruitment commenced


Wellcome-Beit Prize

AACR-Pezcoller Foundation Scholar-In-Training Award

Wellcome Trust Intermediate Clinical Fellowship awarded

Certificate of Specialist Training Awarded in Clinical Genetics


PhD awarded

EACR Susan G. Komen Prize

Robin Winter Prize


ASHG Semifinalist Trainee Prize


Wellcome Trust Clinical PhD Programme commenced