Serena is a CRUK Advanced Clinician Scientist and an Honorary Consultant in Clinical Genetics. 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 runs 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. 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.
HAP1 isogenic cell models of gene knockouts (published 1st May)
560 breast cancer genomes (PMID: 27135926) + 80 breast cancer genomes (PMID: 282881100)
21 breast cancer genomes (PMID: 22608084)
For a complete list of publications, please visit:
Selected recent publications
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. 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.
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, 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. 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, 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. 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. 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, Zou X, Davies H, Staaf J, Sieuwerts AM, Brinkman AB, Martin S, Ramakrishna M, Butler A, Kim HY, Borg Å, Sotiriou C, Futreal PA, Campbell PJ, Span PN, Van Laere S, Lakhani SR, Eyfjord JE, Thompson AM, Stunnenberg HG, van de Vijver MJ, Martens JW, Børresen-Dale AL, Richardson AL, Kong G, Thomas G, Sale J, Rada C, Stratton MR, Birney E, Nik-Zainal S. The topography of mutational processes in breast cancer genomes. Nature communications. 2016; 7:11383. PubMed PMID: 27136393, PMCID: PMC5001788