Public Release: 

Study makes case for wider gene testing in bowel cancer

Institute of Cancer Research

Up to a quarter of patients with bowel cancer who have a family history of the disease could have the causes of their cancer identified through gene testing, a new study reports.

Wider testing for known cancer genes in patients with bowel cancer could help in their diagnosis and treatment, and in the early detection or prevention of cancers in their relatives, the researchers said.

Scientists at The Institute of Cancer Research, London, sequenced genes in more than 600 patients with a family history of bowel cancer - and found known mutations could be identified in 'a high proportion'.

The researchers, who received funding from Cancer Research UK and the European Union, said their findings suggested patients with bowel cancer and a family history should routinely be tested for a range of known cancer genes.

But they stressed there was also a need for further research to identify new cancer genes that could be involved in the three quarters of cases where no mutations in known cancer genes could be detected.

Scientists at The Institute of Cancer Research (ICR) sequenced the DNA of 626 patients with bowel cancer and a family history of early-onset disease from 140 clinical centres across the UK.

Their study, published in the Journal of Clinical Oncology today (Monday), found that inherited susceptibility to bowel cancer was common among patients with a family history of the disease.

Inherited mutations in a well-known group of genes called the mismatch repair genes alone accounted for 11% of familial bowel cancers. Genetic screening to detect defects in these genes has previously been shown to reduce bowel cancer death rates.

Professor Richard Houlston, Professor of Molecular and Population Genetics at The Institute of Cancer Research, London, said:

"Knowing which cancer gene has caused bowel cancer isn't just important for researchers - it's crucial for the treatment, counselling and surveillance of patients and their relatives.

"Our study has found that using just existing tests for known cancer genes, we could identify the genetic causes of familial bowel cancer in perhaps as many as a quarter of cases. It's vital that we improve access to genetic testing for cancer patients and their relatives so as many as possible can have a genetic diagnosis.

"Of course, we are still left with three-quarters of patients where no genetic cause could be identified, and that underlines the need for further research to identify new cancer genes."

Dr Áine McCarthy, Cancer Research UK's science information officer, said:

"So far, there are 10 gene faults that we know are linked to inherited bowel cancer. People with these gene faults have a much higher risk of developing the disease and so are screened from a younger age. But this research shows that around three-quarters of people with a family history of bowel cancer do not have these known gene faults.

"By testing a much larger portion of their DNA we may be able to discover other mistakes in different genes that can also cause bowel cancer. This could potentially help doctors decide how best to monitor people for early signs of bowel cancer and guide their treatment."


Notes to editors

For more information contact Claire Hastings, Media Officer at ICR, on 020 7153 5380 / For enquiries out of hours, please call 07595963613.

The Institute of Cancer Research, London, is one of the world's most influential cancer research institutes.

Scientists and clinicians at The Institute of Cancer Research (ICR) are working every day to make a real impact on cancer patients' lives. Through its unique partnership with The Royal Marsden NHS Foundation Trust and 'bench-to-bedside' approach, the ICR is able to create and deliver results in a way that other institutions cannot. Together the two organisations are rated in the top four cancer centres globally.

The ICR has an outstanding record of achievement dating back more than 100 years. It provided the first convincing evidence that DNA damage is the basic cause of cancer, laying the foundation for the now universally accepted idea that cancer is a genetic disease. Today it leads the world at isolating cancer-related genes and discovering new targeted drugs for personalised cancer treatment.

As a college of the University of London, the ICR provides postgraduate higher education of international distinction. It has charitable status and relies on support from partner organisations, charities and the general public.

The ICR's mission is to make the discoveries that defeat cancer. For more information visit

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