Serena qualified in medicine from the University of Cambridge in 2000. She undertook a PhD at the Wellcome Sanger Institute (WSI) in 2009 exploring breast cancer using whole genome sequencing (WGS). She demonstrated how detailed downstream analyses of all mutations present in WGS 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”.

Serena was awarded a Wellcome Trust Intermediate Clinical Fellowship in 2013. She joined the Sanger Institute faculty team in 2014 and continued to develop particular expertise in the analysis and interpretation of WGS tumours. Apart from using computational approaches, she also studies mutational signatures experimentally using cell-based model systems. Serena ran a clinical project, Insignia, 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. Serena moved to the Department of Medical Genetics in 2017 in order to accelerate the translation of her genomics expertise towards clinical applications and to further her work into the physiological mechanisms underpinning mutagenesis.

 

ORCID: https://orcid.org/0000-0001-5054-1727

Funders

CRUK

Dr Josef Steiner Foundation

NIHR

Publications

For a complete list of publications, please visit:

https://www.ncbi.nlm.nih.gov/myncbi/18oRlWoW3TTkj/bibliography/public/?page=1

Selected recent publications

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage.

Zou X, Koh GCC, Nanda AS, Degasperi A, Urgo K, Roumeliotis TI, Agu CA, Badja C, Momen S, Young J, Amarante TD, Side L, Brice G, Perez-Alonso V, Rueda D, Gomez C, Bushell W, Harris R, Choudhary JS; Genomics England Research Consortium, Jiricny J, Skarne WC, Nik-Zainal S.Nat Cancer. 2021 Jun;2(6):643-657. doi: 10.1038/s43018-021-00200-0. Epub 2021 Apr 26.PMID: 34164627 

Mutational signatures: emerging concepts, caveats and clinical applications.

Koh G, Degasperi A, Zou X, Momen S, Nik-Zainal S.Nat Rev Cancer. 2021 Oct;21(10):619-637. doi: 10.1038/s41568-021-00377-7. Epub 2021 Jul 27.PMID: 34316057 Review.

Homologous recombination DNA repair deficiency and PARP inhibition activity in primary triple negative breast cancer.

Chopra N, Tovey H, Pearson A, Cutts R, Toms C, Proszek P, Hubank M, Dowsett M, Dodson A, Daley F, Kriplani D, Gevensleben H, Davies HR, Degasperi A, Roylance R, Chan S, Tutt A, Skene A, Evans A, Bliss JM, Nik-Zainal S, Turner NC.Nat Commun. 2020 May 29;11(1):2662. doi: 10.1038/s41467-020-16142-7.PMID: 32471999 Free PMC article. Clinical Trial.

A practical framework and online tool for mutational signature analyses show inter-tissue variation and driver dependencies.

Degasperi A, Amarante TD, Czarnecki J, Shooter S, Zou X, Glodzik D, Morganella S, Nanda AS, Badja C, Koh G, Momen SE, Georgakopoulos-Soares I, Dias JML, Young J, Memari Y, Davies H, Nik-Zainal S.Nat Cancer. 2020 Feb;1(2):249-263. doi: 10.1038/s43018-020-0027-5. Epub 2020 Feb 17.PMID: 32118208 

Cellular survival over genomic perfection.

Nik-Zainal S, Hall BA.Science. 2019 Nov 15;366(6467):802-803. doi: 10.1126/science.aax8046.PMID: 31727818 

Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study.

Staaf J, Glodzik D, Bosch A, Vallon-Christersson J, Reuterswärd C, Häkkinen J, Degasperi A, Amarante TD, Saal LH, Hegardt C, Stobart H, Ehinger A, Larsson C, Rydén L, Loman N, Malmberg M, Kvist A, Ehrencrona H, Davies HR, Borg Å, Nik-Zainal S.Nat Med. 2019 Oct;25(10):1526-1533. doi: 10.1038/s41591-019-0582-4. Epub 2019 Sep 30.PMID: 31570822 

A Compendium of Mutational Signatures of Environmental Agents.

Kucab JE, Zou X, Morganella S, Joel M, Nanda AS, Nagy E, Gomez C, Degasperi A, Harris R, Jackson SP, Arlt VM, Phillips DH, Nik-Zainal S.Cell. 2019 May 2;177(4):821-836.e16. doi: 10.1016/j.cell.2019.03.001. Epub 2019 Apr 11.PMID: 30982602 

Validating the concept of mutational signatures with isogenic cell models.

Zou X, Owusu M, Harris R, Jackson SP, Loizou JI, Nik-Zainal S.Nat Commun. 2018 May 1;9(1):1744. doi: 10.1038/s41467-018-04052-8.PMID: 29717121 

HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures.

Davies H, Glodzik D, Morganella S, Yates LR, Staaf J, Zou X, Ramakrishna M, Martin S, Boyault S, Sieuwerts AM, Simpson PT, King TA, Raine K, Eyfjord JE, Kong G, Borg Å, Birney E, Stunnenberg HG, van de Vijver MJ, Børresen-Dale AL, Martens JW, Span PN, Lakhani SR, Vincent-Salomon A, Sotiriou C, Tutt A, Thompson AM, Van Laere S, Richardson AL, Viari A, Campbell PJ, Stratton MR, Nik-Zainal S.Nat Med. 2017 Apr;23(4):517-525. doi: 10.1038/nm.4292. Epub 2017 Mar 13.PMID: 28288110 

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, Zou X, Diez-Perez J, Staaf J, Alexandrov LB, Smid M, Brinkman AB, Rye IH, Russnes H, Raine K, Purdie CA, Lakhani SR, Thompson AM, Birney E, Stunnenberg HG, van de Vijver MJ, Martens JW, Børresen-Dale AL, Richardson AL, Kong G, Viari A, Easton D, Evan G, Campbell PJ, Stratton MR, Nik-Zainal S.Nat Genet. 2017 Mar;49(3):341-348. doi: 10.1038/ng.3771. Epub 2017 Jan 23.PMID: 28112740 

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

Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, Martincorena I, Alexandrov LB, Martin S, Wedge DC, Van Loo P, Ju YS, Smid M, Brinkman AB, Morganella S, Aure MR, Lingjærde OC, Langerød A, Ringnér M, Ahn SM, Boyault S, Brock JE, Broeks A, Butler A, Desmedt C, Dirix L, Dronov S, Fatima A, Foekens JA, Gerstung M, Hooijer GK, Jang SJ, Jones DR, Kim HY, King TA, Krishnamurthy S, Lee HJ, Lee JY, Li Y, McLaren S, Menzies A, Mustonen V, O’Meara S, Pauporté I, Pivot X, Purdie CA, Raine K, Ramakrishnan K, Rodríguez-González FG, Romieu G, Sieuwerts AM, Simpson PT, Shepherd R, Stebbings L, Stefansson OA, Teague J, Tommasi S, Treilleux I, Van den Eynden GG, Vermeulen P, Vincent-Salomon A, Yates L, Caldas C, van’t Veer L, Tutt A, Knappskog S, Tan BK, Jonkers J, Borg Å, Ueno NT, Sotiriou C, Viari A, Futreal PA, Campbell PJ, Span PN, Van Laere S, Lakhani SR, Eyfjord JE, Thompson AM, Birney E, Stunnenberg HG, van de Vijver MJ, Martens JW, Børresen-Dale AL, Richardson AL, Kong G, Thomas G, Stratton MR.Nature. 2016 Jun 2;534(7605):47-54. doi: 10.1038/nature17676. Epub 2016 May 2.PMID: 27135926 

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, Bolli N, Davies HR, Knappskog S, Martin S, Papaemmanuil E, Ramakrishna M, Shlien A, Simonic I, Xue Y, Tyler-Smith C, Campbell PJ, Stratton MR.Nat Genet. 2014 May;46(5):487-91. doi: 10.1038/ng.2955. Epub 2014 Apr 13.PMID: 24728294