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.
Nature genetics 2017;49;3;341-348
ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data.
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.
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.
Nature communications 2016;7;12910
Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer.
Cell reports 2016;16;7;2032-46
A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.
Nature communications 2016;7;12222
The topography of mutational processes in breast cancer genomes.
Nature communications 2016;7;11383
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells.
PLoS genetics 2016;12;4;e1005932
VAGrENT: Variation Annotation Generator.
Current protocols in bioinformatics 2015;52;15.8.1-11
cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing.
Current protocols in bioinformatics 2015;52;15.7.1-12
Clock-like mutational processes in human somatic cells.
Nature genetics 2015;47;12;1402-7
The genome as a record of environmental exposure.
Insights into cancer biology through next-generation sequencing.
Clinical medicine (London, England) 2014;14 Suppl 6;s71-7
Mechanisms underlying mutational signatures in human cancers.
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.
Nature genetics 2014;46;5;487-91
Signatures of mutational processes in human cancer.
Deciphering signatures of mutational processes operative in human cancer.
Cell reports 2013;3;1;246-59
DNA deaminases induce break-associated mutation showers with implication of APOBEC3B and 3A in breast cancer kataegis.
The landscape of cancer genes and mutational processes in breast cancer.
The life history of 21 breast cancers.
Mutational processes molding the genomes of 21 breast cancers.
Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.
Nature communications 2019;10;1;4717
A practical guide for mutational signature analysis in hematological malignancies.
Nature communications 2019;10;1;2969