Archive Page: Nik-Zainal Group | Signatures of mutagenesis in somatic cells

Archive Page: Nik-Zainal Group | Signatures of mutagenesis in somatic cells

Nik-Zainal Group

The Nik-Zainal Group | Signatures of mutagenesis in somatic cells moved to the University of Cambridge in 2017. This page is being maintained as a historical record of the work of the group and is no longer being updated.
zainalgroup.jpgSanger Institute, Genome Research Limited

Our Research and Approach

Until they moved to the University of Cambridge in 2017, the Signatures of mutagenesis in somatic cells group 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.

The DNA in our cells can become damaged due to wear and tear from within our cells and can be damaged by the environment, for example ultraviolet-radiation from the sun. We have a DNA repair toolkit that fixes most of this damage. However, any damage that is not repaired, or is repaired badly, can lead to permanent changes to the genetic code (known as mutations). The group studied the patterns of mutations - or 'signatures' - that build up in DNA to understand how and why they cause health problems such as cancer, brain diseases and aging.

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Dr Serena Nik-Zainal
Group Leader

Serena was a Career Development Fellow (CDF) Group Leader in the Cancer Genome Project.

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Key Projects, Collaborations, Tools & Data

We collaborated with a wide range of people to gain insights into mutational signatures.Serena is a member of a consortium of scientists in DNA repair/replication biology and genomics (COMSIG) and worked closely with Steve Jackson, Mike Stratton, Bill Skarnes and David Phillips.The group collaborated with Ewan Birney to gain insights into mutagenesis relative to aspects of genome architecture.Serena also worked with Ludovic Vallier exploring somatic variation in cell-based systems and interacted with Ludmil Alexandrov and Mike Stratton exploring mutation signatures in cancers.

Programmes, Associate Research Programmes and Facilities

Partners and Funders

Internal Partners


  • 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

  • Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.

    Ju YS, Alexandrov LB, Gerstung M, Martincorena I, Nik-Zainal S et al.

    eLife 2014;3

  • 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

  • Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.

    Tarpey PS, Behjati S, Cooke SL, Van Loo P, Wedge DC et al.

    Nature genetics 2013;45;8;923-6

  • 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

  • The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models.

    Yen J, White RM, Wedge DC, Van Loo P, de Ridder J et al.

    Genome biology 2013;14;10;R113

  • 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

  • Estimation of rearrangement phylogeny for cancer genomes.

    Greenman CD, Pleasance ED, Newman S, Yang F, Fu B et al.

    Genome research 2012;22;2;346-61

  • Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

    Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P et al.

    The New England journal of medicine 2011;365;15;1384-95

  • Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

    Fernández-Rebollo E, Pérez de Nanclares G, Lecumberri B, Turan S, Anda E et al.

    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011;26;8;1854-63

  • High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.

    Nik-Zainal S, Strick R, Storer M, Huang N, Rad R et al.

    Journal of medical genetics 2011;48;3;197-204

  • Massive genomic rearrangement acquired in a single catastrophic event during cancer development.

    Stephens PJ, Greenman CD, Fu B, Yang F, Bignell GR et al.

    Cell 2011;144;1;27-40

  • Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male.

    Nik-Zainal S, Cotter PE, Willatt LR, Abbott K and O'Brien EW

    European journal of medical genetics 2011;54;1;97-101

  • The patterns and dynamics of genomic instability in metastatic pancreatic cancer.

    Campbell PJ, Yachida S, Mudie LJ, Stephens PJ, Pleasance ED et al.

    Nature 2010;467;7319;1109-13

  • A small-cell lung cancer genome with complex signatures of tobacco exposure.

    Pleasance ED, Stephens PJ, O'Meara S, McBride DJ, Meynert A et al.

    Nature 2010;463;7278;184-90

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

    Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z et al.

    The New England journal of medicine 2008;359;16;1685-99

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

    Nik-Zainal S, Holder SE, Cruwys M, Hall CM and Shaw-Smith C

    Clinical dysmorphology 2008;17;3;169-75

  • Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

    Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K et al.

    Human mutation 2008;29;1;150-8

  • Cardiac glycosides inhibit detubulation in amphibian skeletal muscle fibres exposed to osmotic shock.

    Nik-Zainal S, Skepper JN, Hockaday A and Huang CL

    Journal of muscle research and cell motility 1999;20;1;45-53

  • 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

  • Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.

    Petljak M, Alexandrov LB, Brammeld JS, Price S, Wedge DC et al.

    Cell 2019;176;6;1282-1294.e20