Serena Nik-Zainal is a UK-based Malaysian doctor. She is a CRUK Advanced Clinician Scientist and an Honorary Consultant in Clinical Genetics.
In October 2019, Serena won the Dr Josef Steiner Cancer Research Award in recognition of her groundbreaking research in developing new methods in the field of bioinformatics for the clinically-relevant classification of tumours.
It is the first time that this award goes in full to a women scientist.
Serena qualified in medicine from the University of Cambridge in 2000 on a scholarship from Petronas, Malaysia. She undertook a PhD at the Wellcome Sanger Institute (WSI) in 2009 exploring breast cancer using whole-genome sequencing (WGS).
Here, 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. She also identified a novel phenomenon of localised hypermutation termed “kataegis”.
“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.”
Serena was awarded a Wellcome Trust Intermediate Clinical Fellowship in 2013 and 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. She was awarded a CRUK Advanced Clinician Scientist Fellowship in 2017 and moved to the University of Cambridge in order to accelerate the translation of her genomics expertise towards clinical applications and to further her work into the physiological mechanisms underpinning mutagenesis.Tags: cancer, cancer prevention, cancer research, cancer treatment, genetics, genomics