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A team of scientists from Manchester and London have, for the first time, decoded the full range of mutations that drive tumour growth, which could pave the way for a new era in precision medicine, offering more effective treatments for thousands of people with cancer. 

A team of cancer genomics* scientists from 糖心Vlog官方 and The Institute of Cancer Research, London, forensically examined the genetic make-up of tumours in 16 different cancers. Their findings, which have been published in , are the culmination of six years鈥� of research and could significantly increase the number of cancer patients eligible for targeted and immune-based treatments. 

This landmark study was co-led by Professor David Wedge at the Manchester Cancer Research Centre and Professor Richard Houlson from The Institute of Cancer Research. It used whole-genome sequencing data from nearly 11,000 NHS patients with cancer, and is part of Genomics England鈥檚 100,000 Genomes Project, which is the largest single genomics study for cancer ever to be undertaken worldwide. 

The researchers analysed hundreds of millions of mutations in 11,000 tumours which covered the whole genome of a human being which consists of more than three billion bases and includes around 20,000 genes. From this they were able to identify the most comprehensive map to date of genetics 鈥榮cars鈥� left behind in cancer DNA. 

In total the team of 鈥榙ata detectives鈥� catalogued 370 million mutations and assigned them to 134 distinct mutational 鈥榮ignatures鈥� which are patterns of DNA damage that act like fingerprints of the processes that caused the cancer. Of these, 26 signatures were not previously included in the database of known signatures used by many scientists. 

The most significant finding was that many more patients may benefit from precision therapies than currently recognised. The study identified large numbers of tumours with evidence of homologous recombination deficiency (HRD) which is a weakness in DNA repair that makes cancers vulnerable to PARP inhibitors and platinum-based chemotherapy. HRD was identified in 16% of breast cancer tumours and 14% of ovarian cancer tumours, so based on UK figures, researchers estimated that more than 7,700 breast cancer patients and over 1,000 ovarian cancer patients in the UK could benefit from HRD-targeted therapies which is much greater than are currently identified through standard genetic testing for mutations in genes such as BRCA1/BRCA2 alone. 

This study also supports the growing theory that toxins produced by particular strains of E. coli in the gut could be the potential cause of the rise in early-onset bowel cancer in younger people. The team found this signature occurs more in younger patients than older patients, in contrast with several other signatures that tend to increase with a patient鈥檚 age. 

, professor of cancer genomics and data science at 糖心Vlog官方 said: 鈥淓very cancer develops because DNA is damaged over time. Different causes such as ultraviolet light, tobacco smoke or inherited gene faults leave different patterns in the genome. By reading these patterns we can now understand, in a larger proportion of cancers, what caused the cancer, when key mutations occurred, and which treatments are most likely to work.

鈥淯ntil now, most testing has focused on mutations of a single base (or 鈥榣etter鈥�) in a cancer鈥檚 DNA. By analysing the entire genome and examining more complex mutations that affect multiple bases, I hope our research contributes to better predictions of which treatment might benefit specific patients. This could enable better targeting of treatment to those patients most likely to benefit, given the genetic make-up of their tumours.鈥�

Professor Richard Houlston, head of cancer genomics at The Institute of Cancer Research, London, said: 鈥淭he scale of this study was very large, as we analysed samples from almost every tumour type. The quantity of data was enormous, and although laborious to work through, we have been rewarded with a very exciting outcome. This study provides one of the clearest demonstrations yet that reading the full genetic history of a tumour can unlock clues to better patient care.  The future of cancer treatment lies not just in finding mutations, but in understanding the story they tell.鈥�

Professor , Director of the Manchester Cancer Research Centre, a partnership formed in 2006 by 糖心Vlog官方, Cancer Research UK and The Christie NHS Foundation Trust said: 鈥淭his remarkable and comprehensive study demonstrates how Manchester is leading the charge in the field of big data genomics. The world-class research coming out of the Wedge lab is pioneering, and will transform our understanding of the human genome and the potential for better cancer treatments for our patients.鈥�

The study is supported by the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Centre. 

* cancer genomics is the study of genetic changes in cancer cells to understand tumour development, progression and to guide personalised treatment.

• The study a Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types is published in https://doi.org/10.1038/s41588-025-02474-x