Active Genetics & Molecular Biology Cancer

Mutagenesis and its biomedical consequences

In plain English

AI plain-English summary

Every time a cell divides, it risks introducing typos into the roughly three billion letters of human DNA. This research aims to understand exactly how those typos—mutations—arise, whether from natural copying errors, sunlight, tobacco smoke, or medical treatments. The problem is that some mutations drive cancer, cause inherited diseases, and may contribute to ageing, while most others are harmless. No one fully understands why certain DNA changes matter and others do not. This project fills that gap by revealing the underlying mechanisms that produce mutations in the first place. If successful, the work could change how cancers are treated. The specific patterns of mutations in a tumour can reveal the biological defects allowing it to grow—and those same defects may become targets for therapies tailored to that individual cancer. The research also helps identify the rare, harmful mutations hidden among thousands of neutral ones, which can improve diagnosis of inherited diseases. This is primarily fundamental science. It does not promise an immediate product or clinical tool. But understanding how DNA is copied and repaired has historically led to breakthroughs in chemotherapy, genetic testing, and personalised medicine. Deeper knowledge of mutation mechanisms will likely open similar doors.

View original technical description
We are working to understand what causes changes to the DNA sequence in our cells. New DNA changes are called mutations. Some of these mutations drive the development of cancer, some cause inherited disease and they may contribute to the ageing of our bodies. But many, perhaps most, have no effect. Mutations can come about through natural processes in our cells, or they can be caused by exposure to damaging environments such as ultraviolet radiation in sunlight, dangerous chemicals in tobacco smoke, and as a side-effect of some medical treatments. Our work reveals the mechanisms that lead to these mutations. Learning about the causes of mutations tells us a great deal about the processes in our cells that copy and repair DNA. This can suggest new ways to treat cancers. The patterns of mutations we see in a cancer can reveal defects that may be allowing the cancer to grow, but might also be used to target treatments specifically to that cancer. Working out the patterns of new mutations helps us find those rare ones that have an important effect. This can help understand disease or target therapies. We specialise in making the most of data that already exists, which extracts the maximum insight from past investments and minimises the use of animals. Where the data we need doesn’t exist, we work with other groups in the MRC Human Genetics Unit, and international collaborators to efficiently generate it.

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Researchers

Martin Taylor (Principal Investigator)

Related Research

Grants with similar aims, by meaning.

Mutagenesis and its Biomedical Impact
Mutation and recombination in the human genome
Origins and impacts of regulatory mutations
Advancing the understanding and applications of mutational signatures
Molecular consequences of DNA damage and dysregulation

Original classification

Intramural

Plain English summaries and category classifications on this site are generated by AI and may not perfectly reflect the original research.