Main Menu

Pooled Genome Data Reveals Four Bowel Cancer Risk Gene Variants


Monday 15 November 2010


Cancer Research UK funded scientists have discovered four new genetic variants linked to bowel cancer by combining data from three major genome studies, reveals a study published in Nature Genetics*.


Pooling the data in this way created the largest study of its kind, involving over 45,000 volunteers with and without bowel cancer, allowing previously undetected genetic sites to be pinpointed.


The Cancer Research UK funded research group** is behind all fourteen of the gene variants that have so far been linked to bowel cancer - identified as the result of ten years of investigations.


Professor Richard Houlston, one of three senior authors on the study and head of The Institute of Cancer Research’s (ICR) Molecular and Population Genetics Team, said: “Our study identifies four completely new genetic variants that can influence a person’s risk of developing bowel cancer, suggesting that even more variants linked to bowel cancer are yet to be discovered.


“Although each of these variants has only a small impact on a person’s risk of developing the disease, there is now genuine hope that as we discover more pieces of the jigsaw we can start to identify those who are at highest risk, helping to better target measures to prevent the cancer, or detect it earlier to maximise the chance of treatment being successful.”


In the hunt for bowel cancer genes, the researchers led by Professor Richard Houlston from the ICR, Professor Malcolm Dunlop from the MRC Human Genetic Unit and the University of Edinburgh and Professor Ian Tomlinson from the Wellcome Trust Centre for Human Genetics and the University of Oxford, scoured the genomes of 3,334 bowel cancer patients and 4,628 people without the disease from across the UK.


Comparing the genomes of people with and without the disease allowed them to pinpoint a total of seven different one-letter alterations in the genetic code – known as single nucleotide polymorphisms (SNPs) – where genes involved in the development of bowel cancer were most likely to be found.


To confirm their finding they then looked at an additional 18,095 bowel cancer patients and 20,197 people without bowel cancer.


Four of the seven genetic sites were clearly associated with small but significantly raised risk of bowel cancer among the general population, bringing the total number identified to fourteen.


Bowel cancer is the third most common cancer in the UK. Each year more than 38,000 people are diagnosed in the UK, that’s more than 100 people a day. Around 16,000 people a year die from bowel cancer in the UK.


Cancer Research UK's director of cancer information, Dr Lesley Walker, said: “The scientists we fund are leading the world in identifying genes that contribute to bowel cancer risk, paving the way for more targeted approaches to treating and diagnosing the disease.


“The vision for the future is that such discoveries will feed into the development of high-tech gene profiling technologies, ensuring those at greatest risk can benefit from closer monitoring. Early detection, improved treatments and effective prevention - like the Flexiscope test we’re calling on the government to introduce which detects large pre-cancerous polyps in the bowel - will help cut death rates from this type of cancer.”




Media contact: Ailsa Taylor in the Cancer Research UK press office on 020 3469 8309 or, out-of-hours, the duty press officer on 07050 264 059


Notes to editors:

* The study is published as Houlston et al. Nature Genetics (2010), Meta-analysis of three UK genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.

** This study is the culmination of an ongoing ten year collaboration between Professor Richard Houslton from the Institute of Cancer  Research (ICR), Professor Malcolm Dunlop from the MRC Human Genetic Unit and the University of Edinburgh and Professor Ian Tomlinson from the Wellcome Trust Centre for Human Genetics and the University of Oxford. This Cancer Research UK-funded team is at the forefront of research into the genetic and environmental causes of bowel cancer and is behind all fourteen of the gene variants that have so far been linked to the disease. This work was also supported by members of COGENT (Colorectal Cancer GENeTics) – an international consortium studying the contribution of genes to bowel cancer risk.


Cancer Research UK

  • Cancer Research UK is the world’s leading charity dedicated to beating cancer through research.
  • The charity’s groundbreaking work into the prevention, diagnosis and treatment of cancer has helped save millions of lives.  This work is funded entirely by the public.
  • Cancer Research UK has been at the heart of the progress that has already seen survival rates double in the last thirty years.
  • Cancer Research UK supports research into all aspects of cancer through the work of more than 4,800 scientists, doctors and nurses.
  • Together with its partners and supporters, Cancer Research UK's vision is to beat cancer.

For further information about Cancer Research UK's work or to find out how to support the charity, please call 020 7121 6699 or visit

The Institute of Cancer Research (ICR)

  • The ICR is Europe’s leading cancer research centre
  • The ICR has been ranked the UK’s top academic research centre, based on the results of the Higher Education Funding Council’s Research Assessment Exercise
  • The ICR works closely with partner The Royal Marsden NHS Foundation Trust to ensure patients immediately benefit from new research. Together the two organisations form the largest comprehensive cancer centre in Europe
  • The ICR has charitable status and relies on voluntary income, spending 90 pence in every pound of total income directly on research
  • As a college of the University of London, the ICR also provides postgraduate higher education of international distinction
  • Over its 100-year history, the ICR’s achievements include identifying the potential link between smoking and lung cancer which was subsequently confirmed, discovering that DNA damage is the basic cause of cancer and isolating more cancer-related genes than any other organisation in the world

For more information visit

The Wellcome Trust Centre for Human Genetics was established to undertake research into the genetic basis of common diseases. The scientific objective of the Centre is to explore all aspects of the genetic susceptibility of the disease. The Centre houses multi-disciplinary research teams in human genetics, functional genomics, bioinformatics, statistical genetics and structural biology. 

For more information visit

comments powered by Disqus