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Call to screen under-50s with bowel cancer for Lynch syndrome

Screening for Lynch syndrome in younger people diagnosed with colorectal cancer and their relatives would be cost-effective for the NHS and prevent new cases, University of Exeter researchers have concluded.

The team found that screening the 1,700 people under the age of 50 who are newly diagnosed with colorectal cancer in England each year would identify two thirds of those whose cancer was caused by Lynch syndrome.

Further testing would then mean up to 40 further cases of cancer – including both colorectal and endometrial cancer – could be avoided in them and their relatives, according to the report in Health Technology Assessment journal.

The team systematically reviewed 42 studies that included information on Lynch syndrome and colorectal cancer, before constructing a computer model of screening strategies for Lynch syndrome.

All the screening strategies helped improve health outcomes at the cost generally considered acceptable to the NHS of £20,000 per QALY gained. The most cost-effective methods of screening involved testing tumours for mutations in specific MMR (DNA mismatch repair) genes that cause the syndrome, before offering counselling and genetic testing.

Dr Ian Frayling, from Cardiff University’s Institute of Medical Genetics, who was the clinical advisor for the research, said: ‘This is a very significant piece of work which is much to be welcomed. It justifies the NHS in the UK implementing such testing, which is already carried out in other European countries. Those with Lynch syndrome will now be found and given the care that they warrant, saving time, lives, money and resources.’

Health Technology Assessment 2014; available online September

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