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Serena Nik-Zainal, MB, PhD

The Chancellor, Masters, and Scholars of the University of Cambridge
Cambridge, United Kingdom

Titles and Affiliations

Professor of Genomic Medicine and Bioinformatics,
Medical Genetics & Early Cancer Institute
NIHR Research and Professor and Honorary Consultant, Clinical Genetics
The Chancellor, Masters, and Scholars of the University of Cambridge
Cambridge, United Kingdom

Research area

Understanding the genetic drivers of breast cancer in order to prevent recurrence or metastasis


Cancer results from the accumulation of DNA mutations over time. Those genomic scars provide clues regarding the abnormalities that have contributed to each person’s cancer. Whole genome sequencing (WGS) gives us an opportunity to study those mutations and obtain a comprehensive picture of each individual breast cancer. From this research, investigators have compiled substantial information on the genetics of estrogen receptor-positive (ER-positive) breast cancers but relatively little is known about the connection between genomic factors and metastasis. Dr. Nik-Zainal is focused on this avenue of investigation and hopes to identify suitable treatment targets to prevent ER-positive breast cancer from developing or metastasizing.

What’s next

Dr. Nik-Zainal and her colleagues are conducting several lines of investigation that utilize WGS: they will employ WGS to gain a clearer understanding of what drives recurrence or metastasis in ER-positive breast cancers and to explore the genomes of the earliest forms of breast cancer, ductal carcinoma in situ, to define targetable factors to prevent cancer from developing. Other studies will delve into two types of mutation patterns that are much less studied (insertions/deletions and rearrangements) and their impact on the proteins that are recognized by the immune system. Dr. Nik-Zainal hopes these studies will accelerate the benefit of WGS into the clinic to better personalize and inform effective patient care.


Serena Nik-Zainal, MB PhD is a Professor of Genomic Medicine and Bioinformatics and an NIHR Research Professor at the University of Cambridge. Dr. Nik-Zainal has particular expertise in whole cancer genomics. Her team combines computational and experimental approaches to explore patterns of mutagenesis or mutational signatures in human cancers, to understand how and why they arise in cancer. They also utilize machine-learning to create clinical algorithms to inform treatment decisions for cancer patients.

Recently, Dr. Nik-Zainal delivered the largest cancer genome analysis ever reported (over 18,640 whole cancer genomes) in partnership with Genomics England and leads the Genomic Medicine theme of the NIHR Cambridge Biomedical Research Centre to modernize computational infrastructure and develop federation capabilities, to enable a future of data-driven healthcare. She teaches extensively, developing material on cancer genome interpretation for the National Training Programme in Clinical Genetics in conjunction with Health Education England. Her work is recognized by awards such as the Dr. Josef Steiner Cancer Research Award 2019, Foulkes Foundation Medal 2021, and the Royal Society Sir Francis Crick Medal and Lecture in 2021.

BCRF Investigator Since