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Genetic testing for bowel cancer could save lives

In a huge study carried out by Cardiff University School of Medicine has found that by screening families of patients with bowel cancer for a genetic condition, their individual risk of developing either bowel cancer, womb or ovarian cancers would decrease.

Researchers from both Cardiff and the University of Exeter’s Medical School analysed the effectiveness of introducing a nationwide screening programme for a genetic condition known colloquially as Lynch Syndrome.

Lynch Syndrome is often causes by changes in genes which check that the DNA is all in order. The condition increases the risk of individuals developing cancer, particularly bowel cancer, and uterine cancers later in life. By testing cancerous tissue samples, it is not entirely obvious that they have been caused by Lynch Syndrome and so it is not often diagnoses.

Dr Ian Frayling, a lead researcher in the study at Cardiff University said, “If Lynch Syndrome is identified as the cause of bowel cancer, patients can be offered risk-reducing measures such as more intensive post-operative colonoscopy surveillance to spot recurrences and new cancers early. As close relatives have a 50% higher chance of sharing the gene, screening would provide a valuable opportunity to detect the condition in children, siblings, parents and more distant relatives.”

“It would mean measures could be taken to reduce the risk of cancers developing.” Dr Frayling added.

The study’s findings, which have been recently published in Health Technology Assessment, indicated that screening over 1,700 people under the age of 50 who have been recently diagnosed with bowel cancer each year, could identify a further two thirds of those whose cancer was caused directly by Lynch Syndrome. From this, the research team determined that a further 40 cases of cancer could be treated early and avoided in close relatives.

Dr Ian Frayling added, “Those with Lynch Syndrome will be found and given the care that they warrant, saving time, lives, money and resources. Colleagues around the world are eager to use the model developed by the University of Exeter’s Medical School, so the benefits extend far beyond the UK.”

Screening strategies for conditions such as bowel cancer help improve health outcomes at a cost which is generally acceptable to the Government and the NHS, but the most cost-effective way (and therefore the best way of introducing it across a huge population) involves running tests on tumours before offering counselling and then genetic testing.

In a separate report of their research, the team of scientists predict that using this screening model, 28 cancer-related deaths could be prevented each year if Lynch Syndrome screening for people with bowel cancer was introduced nationwide.

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