ENP Newswire -
Release date- 02062014 - Researchers who identified a new gene causing an inherited form of bowel cancer and developed an internationally-adopted system of testing to improve genetic counselling and medical care are joint winners of this year's Medical Breakthrough Award.
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
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,' says Sampson.
'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.
More than 11,000 patient samples have been tested internationally for MUTYH mutation since the gene was discovered, generating income of around
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
The work also contributed to the award of a Queen's Anniversary Prize to
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