Genetics behind colorectal cancer revealed in new study

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Health news
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A new study identifies over 250 genes that play a part in the development of colorectal cancers.

More than 250 key genes that play a crucial role in the development of colorectal cancer (CRC) have been identified in a new study by the Universities of Leeds, Oxford and Manchester and the Institute of Cancer Research. 

Colorectal cancer is a major cause of death worldwide. While many cancers develop partly through genetic abnormalities within the cells of the body, the genetic changes which cause them to grow aren’t yet widely understood.  

The groundbreaking study was the most comprehensive analysis of the genetic makeup of CRCs to date. 

This research is a great insight into the biology of colorectal cancer, uncovering the clues as to how it develops, grows, and responds to treatments.

Professor Richard Houlston, Professor of Cancer Genomics at The Institute of Cancer Research, London

Utilising data from 2,023 bowel cancers from the 100,000 Genomes Project led by Genomics England and NHS England, the research team also identified new CRC cancer sub-groups - categories of cancer with specific genetic characteristics that affect how cancer behaves and responds to treatment.  

Published in the science journal Nature, this new study found some of the causes of genetic mutation, offering an unparalleled view of the genetic landscape of CRC and its responses to current treatments. These insights could pave the way for new treatments, using methods which currently treat other cancers. 

Dr Henry Wood, Lecturer in Translational Bioinformatics from Pathology in the University of Leeds’ School of Medicine, said: “This study is the first to provide in-depth, whole-genome sequencing and characterisation of the microbiome - the community of bacteria and viruses that live in the gut - in a large number of cases of bowel cancer. This means that we are now in a position to investigate the importance of the microbiome in the development of these cancers, and whether we can change it to influence the tumour and improve patient outcomes.” 

The research provides a vital resource for the scientific community and a promising foundation for future studies. The results from the study are available to other researchers, who are invited to build on the data by undertaking more focused projects based on the CRC genome.   

Key Findings of the study

  • Identification of Over 250 Key Genes: The study pinpointed over 250 genes that play a crucial role in CRC, most of which have not been linked to CRC or other cancers.
  • New Sub-Groups of CRC: Four novel, common sub-groups of CRC have been discovered based on genetic features. In addition, several rare CRC sub-groups have been identified and characterised. These groups have different patient outcomes and may respond differently to therapy.  
  • Genetic Mutation Causes: The research reveals a variety of genetic changes across different regions of the colon and rectum, highlighting differences in what causes CRC between different individuals. For example, a process has been found that is more active in cancers affecting younger CRC patients; the cause is currently unknown, but it might be linked to diet and smoking.  
  • New Treatment Pathways: Many identified mutations could potentially be targeted with existing treatments currently used for other cancers.

Co-lead researcher, Ian Tomlinson, Professor of Cancer Genetics at the University of Oxford, said: “Our findings represent a significant advancement in understanding colorectal cancer. By better understanding the genetic changes in CRC, we can better predict patient outcomes and identify new treatment strategies, quite possibly including the use of anti-cancer drugs that are not currently used for CRC.”

Co-lead researcher, Professor Richard Houlston, Professor of Cancer Genomics at The Institute of Cancer Research, London, said: “This research is a great insight into the biology of colorectal cancer, uncovering the clues as to how it develops, grows, and responds to treatments. I look forward to seeing future studies use these findings to develop tailored treatments for people with colorectal cancer, based on their genetics.”  

Co-lead researcher, Professor David Wedge, Professor of Cancer Genomics and Data Science at the University of Manchester, said: “This is the first really large study to come out of the 100,000 Genomes Project led by Genomics England and NHS England. In the coming months and years, I expect it to be followed by many more studies of different types of cancer as well as combined studies across all types of cancer, fuelled by the fantastic data resource provided by Genomics England.” 

Further information 

The genomic landscape of 2,023 colorectal cancers’ is published in Nature on 7 August 2024.

Dr Henry Wood is available for interview - to arrange this and for other media enquiries email Lauren Ballinger in the University of Leeds press office on l.ballinger@leeds.ac.uk

Top image: Adobe Stock.