PEOPLE at high risk of bowel and womb cancer will receive a more accurate diagnosis


New hopes for cancer prediction

PEOPLE at high risk of bowel and womb cancer will receive a more accurate diagnosis due to a new model that can turn “previously uninterpretable DNA data into usable knowledge”, scientists say.

A scientist from Cardiff University is part of an international research team that claims to have developed a new way of identifying people at high risk of cancer.

The study focuses on the genes responsible for Lynch Syndrome, which is a rare condition that runs in families and is the most common form of hereditary bowel cancer.

People with the syndrome also have an increased risk of developing other cancers, including womb cancer.

It is hoped the research will enable doctors to give patients a more accurate picture of their familial risk.

“In the UK, bowel cancer kills about 16,000 people each year, and womb cancer – the commonest gynaecological cancer – about 2000 women a year, with Wales having the highest rate,” said Dr Ian Frayling, from Cardiff University’s Institute of Medical Genetics and a member of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), which organised the research.

“What we have been able to do is effectively refine genetic information in the InSiGHT database and provide a more accurate answer of the risk of getting cancer,” he said.

As a result of this study, published in the journal Nature Genetics, doctors will be able to say “much more confidently” whether patients have Lynch Syndrome, and therefore whether they are at a higher risk of cancer, Dr Frayling said.

“This will help to save more lives, because by giving a definite answer to more patients they will be able to access the specialist screening that they need,” he said.

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