Professor Serena Nik-Zainal

University of Cambridge

University departments
Department of Medical Genetics
Department of Oncology
University institutes
Early Cancer Institute
NHS or other affiliations
Cambridge University Hospitals NHS Foundation Trust

Position: Group Leader
Personal home page:

PubMed journal articles - click here

Professor Serena Nik-Zainal is pleased to consider applications from prospective PhD students.

Research description

A cancer genome carries the scars of historic mutagenic activity that has occurred throughout the development of the tumour. While driver mutations were the main focus of cancer research for a long time, passenger mutations are also biologically informative. They report the DNA damage and DNA repair processes that have been operative during tumorigenesis, that leave characteristic imprints or mutational signatures in the developing cancer genome.
Previously, we were focused on computational delineation of mutational signatures in human cancers. More recently, we have become engrossed in experimental validation of mutational signatures to understand the etiologies that underpin them including environmental and endogenous DNA replicative/repair sources of mutagenesis. The insights that we have gained through combinations of computational analysis and experiments in cell-based systems has led to the development of clinical algorithmic tools that we intend to translate into clinical utility in the near future.
This lab studies the physiology of mutagenesis combining computational approaches with experimental and cancer data. We also seek clinical validity of our observations. We are a diverse group of individuals and are interested in hearing from anyone interested in joining the academic laboratory or clinical/genomic infrastructure team.

Research Programme or Virtual Institute
Early Cancer Institute
Secondary Programme
Pancreatic Cancer
Strategic Resources
Cambridge Experimental Cancer Medicine Centre (ECMC)
Methods and technologies
Cell culture
Clinical practice
Computational modelling
DNA sequencing
Fluorescence microscopy
Statistical analysis
Tumour type interests
Bone and connective tissue
Brain and central nervous system
Hodgkin’s Disease
Karposi’s Sarcoma
Multiple myeloma
Non-Hodgkin lymphoma
Small intestine
Uterus and unspecified
Recent publications:
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Key publications

Georgakopoulos-Soares I, Morganella S, Jain N, Hemberg M, Nik-Zainal S.
Noncanonical secondary structures arising from non-B DNA motifs are determinants of mutagenesis.
Genome Res. 2018 Sep;28(9):1264-1271. doi: 10.1101/gr.231688.117. Epub 2018 Aug 13.

Zou X, Owusu M, Harris R, Jackson SP, Loizou J, Nik-Zainal S.
Validating the concept of mutational signatures with isogenic cell models.
Nature Communications 2018 May 1;9(1):1744. doi: 10.1038/s41467-018-04052-8.

Garaycoechea JI, Crossan GP, Langevin F, Mulderrig L, Louzada S, Yang F, Guilbaud G, Park N, Roerink S, Nik-Zainal S, Stratton MR, Patel KJ.
Alcohol and endogenous aldehydes damage chromosomes and mutate stem cells.
Nature. 2018 Jan 11;553(7687):171-177. doi: 10.1038/nature25154. Epub 2018 Jan 3. PubMed PMID: 29323295.

Zou X, Morganella S, Glodzik D, Davies H, Li Y, Stratton MR, Nik-Zainal S.
Short inverted repeats contribute to localized mutability in human somatic cells. Nucleic Acids Res. 2017 Nov 2;45(19):11213-11221. doi: 10.1093/nar/gkx731.

Nik-Zainal S, Morganella S.
Mutational Signatures in Breast Cancer: The Problem at the DNA Level.
Clin Cancer Res. 2017 Jun 1;23(11):2617-2629. doi: 10.1158/1078-0432.CCR-16-2810.

Davies H, Morganella S, Purdie CA, Jang SJ, Borgen E, Russnes H, Glodzik D, Zou X, Viari A, Richardson AL, Børresen-Dale AL, Thompson A, Eyfjord JE, Kong G, Stratton MR, Nik-Zainal S.
Whole-Genome Sequencing Reveals Breast Cancers with Mismatch Repair Deficiency.
Cancer research. 2017; 77(18):4755-4762. PubMed PMID: 28904067

Davies H, Glodzik D, Morganella S, et al and Nik-Zainal S.
HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures.
Nature medicine. 2017; 23(4):517-525. PubMed PMID: 28288110

Glodzik D, Morganella S, Davies H, et al and Nik-Zainal S.
A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers.
Nature Genetics. 2017; 49(3):341-348. PubMed PMID: 28112740

Nik-Zainal S, Davies H, Staaf J, et al and Stratton MR.
Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016; 534(7605):47-54. NIHMSID: EMS68344 PubMed [journal] PMID: 27135926, PMCID: PMC4910866

Morganella S, Alexandrov LB, Glodzik D, et al and Nik-Zainal S.
The topography of mutational processes in breast cancer genomes.
Nature communications. 2016; 7:11383. PubMed PMID: 27136393, PMCID: PMC5001788

Rouhani FJ, Nik-Zainal S, Wuster A, Li Y, Conte N, Koike-Yusa H, Kumasaka N, Vallier L, Yusa K, Bradley A.
Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells.
PLoS Genet. 2016 Apr 7;12(4):e1005932. doi: 10.1371/journal.pgen.1005932. eCollection 2016 Apr.