Summary of the science
Modern sequencing technologies help us learn more about mutagenesis in cancer genomes.
Our genome contains all the instructions, written in a special code called DNA, that tell our bodies how to grow and work. Mutagenesis is when changes happen in the DNA code, kind of like typos or mistakes. These changes (also called mutations) can sometimes affect how our bodies function and might even lead to diseases like cancer. Sequencing technologies allow scientists to read and understand the DNA code. The genome carries information about previous times where mutations have occurred and if they were repaired, how they were repaired. This provides scientists with a lot of information about DNA damage and repair in cancer cells.
About the research
Serena Nik-Zainal's lab focuses on studying the genomic changes in cancer cells, specifically the mutational signatures that result from past mutagenic events. While driver mutations were previously the main focus, the lab also investigates passenger mutations, which provide biological insights into DNA damage and repair processes during tumourigenesis. They employ computational delineation and experimental validation of mutational signatures to develop algorithmic tools for clinical applications in understanding the causes and consequences of mutagenesis in cancer.
About the illustration
DNA from one of the tumour cells (light pink) is being unravelled so it can be sequenced. To reference the computational technology, we decided to visualise the DNA in straight lines so it resembles a graph or sequencing programme. The white sections indicate the mutational signatures, with some being highlighted to show that they are the ones being investigated.