Serena Nik-Zainal Analyzes Cancer Imprints to Determine Tumor Development

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For years, the health sector has been researching new ways to treat diseases, such as cancer. Medtech companies such as C2i Genomics have come up with ways how to monitor the disease with blood, but there’s still a long way to go in terms of research.

One professor of Genomic Medicine and Bioinformatics from the University of Cambridge, Serena Nik-Zainal, joins the roster of the many researching cancer and how it develops through the help of Next Generation Sequencing (NGS). Her research involves reading the genetic sequence of cancer mutation.

Identifying the tumor imprints

When Nik-Zainal diagnoses her patients who consist of children who have rare disorders, she often checks the genetic mutation of the disorder. However, she found that for a single genome to be sequenced, it took three months and cost thousands of pounds. This wasn’t the kind of money or time that her patients could afford since they mostly belonged in the public sector. Cambridge’s NGS allowed her to have a genome sequenced in a single day, and she realized that this can help with her research in cancer.

Unlike most research which was geared towards driver mutations, Nik-Zainal took to sequencing the passenger mutations to understand them better and found that they carry patterns. The patterns in passenger mutations “showed imprints of the damage and repair processes that had occurred in the DNA”. This meant that it provided vital information on how a tumor developed and what was the best way to handle it.

The imprints also showed that each tumor should be different, meaning that each cancer must be treated differently. That isn’t the case at the moment, however, Nik-Zainal continues to work with her team to hopefully bring a more personalized treatment of patients in the future. Currently, they are trying to develop machine learning to speed up the process of reading the genome sequence. It might take years until any clinical trial takes place, but this can be a step toward providing better treatment for cancer patients.


YouTube: Harnessing the value of mutational signatures in whole cancer genomes

Photo credit: The feature image is symbolic and has been done by Gorodenkoff.

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Danielle Ordonez
Danielle Ordonez
Writer/editor who loves coffee and her cat. Takes a lot of time before finishing a game. Japanophile. Slightly scared of crowds.
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