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Medical Breakthrough Award

02 June 2014

Innovation Awards MB

A study which led to major changes in the treatment of prostate cancer, and researchers who identified a new gene causing an inherited form of bowel cancer have jointly won the Medical Breakthrough prize at this year's Cardiff University Innovation and Impact Awards.

The award was presented to Professor Malcolm Mason, Matt Sydes (Medical Research Council) and Professor Julian Sampson by David Baynes, Director of IP Group Plc.

Identification, translation and commercialisation of the first gene for recessive predisposition to bowel cancer (MUTYH)

The researchers discovered a gene, MUTYH, that, when damaged, leads to a risk of over 80% of bowel cancer. The findings allowed the team to develop tests to screen relatives for pre-malignant signs of the disease at which point curative treatment is the norm. The tests have since been licensed and rolled out across the world.

Led by Professors Julian Sampson and Jeremy Cheadle, the research improved genetic counselling, genetic testing and bowel cancer prevention in colorectal cancer worldwide, and led to more efficient targeting of colonoscopic screening services to high risk patients.

Professor Sampson said: "Without screening and preventative surgery, individuals who inherited this faulty gene from their parents would have gone on to develop bowel cancer."

"The siblings of those affected by this inherited form of bowel cancer were at a one-in-four risk of developing bowel cancer themselves. But prior to development of the gene test family members usually had no idea they were also at very high risk"

Now, clinicians can use a diagnostic test for particular mutations of MUTYH to screen families of patients with bowel cancer, allowing doctors to remove the affected part of the bowel before tumours become malignant.

Professor Jeremy Cheadle said: "The work has had significant commercial impact. MUTYH gene testing is now carried out by at least 84 state and private sector diagnostic laboratories in Europe, and at centres in Australasia. In North America, the University has taken out patents and has licenced intellectual property rights to a US company, Myriad Genetics Inc, generating income of about a third of a million pounds for Cardiff University in royalties."

More than 11,000 patient samples have been tested internationally for MUTYH mutation since the gene was discovered, generating income of around $5m in licence fees for Myriad.

Professor Sampson added: "The changes in clinical genetics, bowel screening and treatment practice based on our research have been incorporated into guidelines published by specialist societies and expert groups in the UK, Europe, North America and Australasia."

Defining a Standard of Care for Locally Advanced Prostate Cancer

The research showed that the risk of death for men suffering from locally advanced or high-risk prostate cancer could be cut significantly by adding radiation therapy to standard hormone treatments.

Professor Malcolm Mason, Cancer Research Wales Professor of Clinical Oncology at the School of Medicine, led the UK arm of the research trial into prostate cancer since 1998, when he was appointed as the UK Chief Investigator, leading the study in this country for the Medical Research Council. Prostate cancer kills around 10,000 men in the UK every year.

Researchers presented new evidence showing that survival rates significantly improve if radiation is added to standard hormone treatments when treating men whose cancer has spread beyond the prostate.

Professor Mason said: "The study has been hailed as something that may change clinical practice. Based on the evidence we have, it would result in the prevention of 43 per cent of deaths from prostate cancer in men with locally advanced cancer.

"Such men make up around 40 percent of all new cases of prostate cancer in the UK, and therefore the results have the potential, worldwide, to prevent thousands of deaths from prostate cancer every year. The success of this study is a real testament to international collaboration."

Matt Sydes, Senior Scientist in the Medical Research Council Clinical Trials Unit added: "This trial exemplifies the importance of international randomised controlled trials in high quality evidence-based medicine. Good data underpins good decision-making. By gathering robust statistics, we were able to show how we could target, and treat, high risk patients."

Locally advanced prostate cancer (where a tumour has extended outside the prostate gland to surrounding tissues) affects around 4,000 men per year in the UK. Prior to the underpinning research, there was no consensus on the standard of care, with hormone therapy often being given alone.

The International randomised clinical trial, led by Cardiff researchers showed that treating locally advanced disease with a combination of radiotherapy and hormone therapy halved the risks of dying of prostate cancer.  

The trial changed medical guidelines and practice in Europe and North America. Prior to the underpinning research, hormone therapy alone was considered adequate treatment. Following Professor Mason’s study, NICE guidelines now advise that 100% of patients suitable for radiotherapy must be offered it.

Related links

School of Medicine

Institute of Cancer and Genetics

Medical Research Council

IP Group Plc