The Chancellor, Masters, and Scholars of the University of Cambridge Cambridge, United Kingdom
Professor of Genomic Medicine and Bioinformatics Medical Genetics and Early Cancer Institute National Institute for Health and Care Research Professor Honorary Consultant in Clinical Genetics
Using whole genome sequencing to personalize breast cancer treatments.
Breast cancer develops because of mutations in DNA that accumulate over a lifetime. Those “genomic scars” provide clues to the origins of a person’s cancer. Whole genome sequencing (WGS) provides a comprehensive map of the mutations within a breast tumor. Because of the work done on the Tumor Genome Atlas, we already know a lot about the genomic profiles of primary breast cancers, particularly those driven by estrogen. Much less is known, however, about the evolution of the tumor genome from early disease to metastatic spread, when tumor cells invade distant tissue. This information can provide clues to why some cancer responds to treatment and others do not.
Dr. Nik-Zainal and her colleagues employ WGS to understand the genomic changes in both early and advanced disease to identify new drug targets that may improve outcomes after diagnosis as well as other factors for breast cancer prevention. Through partnerships in the UK, US, Holland, and Sweden, they have collected data and clinical information from over 600 cases of ductal carcinoma in situ, a premalignant condition that can progress to cancer.
The team will partner with collaborators to develop computer methods to both improve efficiency and reduce the cost of WGS, while investigating less studied mutation patterns and their impact anti-tumor immune response. Dr. Nik-Zainal aims for results of these studies to accelerate use of WGS in the clinic to personalize patient care.
Serena Nik-Zainal, MB, PhD is a Professor of Genomic Medicine and Bioinformatics and a National Institute of Health and Care Research (NIHR) Research Professor at the University of Cambridge. Dr. Nik-Zainal is an expert 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.
In her role with the Genomic Medicine team of the NIHR Cambridge Biomedical Research Centre, she leads efforts 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.
2022
The Lampert Foundation Award
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