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Tristan Snowsill appeared as an invited speaker at the inaugural Lynch Syndrome UK conference

The inaugural conference, organised and attended by people with Lynch syndrome and their family and friends, was held to gather together experts in the field to explain what Lynch syndrome is, how it is diagnosed and how it is managed, as well as to update on current and planned research. Crucially it was also a chance for people affected by Lynch syndrome to ask questions that they cannot ask their local clinicians, because of limited awareness of the disease.

Lynch syndrome is an inherited cancer syndrome which greatly increases the risk of bowel cancer, as well as cancers of the womb and ovaries for women. Lynch syndrome is inherited in a “dominant” fashion which means that there is a 50:50 chance of passing it from parent to child. Not only are the risks of these cancers increased with Lynch syndrome, but they also occur at an earlier age than expected in the general population.

Genetic testing is available which can diagnose Lynch syndrome, and close relatives can also be tested to see if they carry the genetic mutation. If someone is known to have Lynch syndrome they can receive surveillance for bowel cancer to remove precancerous growths and catch cancer in the earlier stages, and can also be offered surgery to remove the womb and ovaries before cancer develops.

Research by PenTAG (commissioned by the NIHR HTA programme) suggests that offering testing for Lynch syndrome to everyone developing bowel cancer under age 50 would be cost-effective for the NHS, and extending this to people aged under 70 could also be cost-effective [Snowsill T, Huxley N, Hoyle M, et al. A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome. Health Technology Assessment 2014;18(58); DOI: 10.3310/hta18580].

PenTAG researcher, Tristan Snowsill, said of his experience speaking at the inaugural conference: “It has been fantastic to meet the Lynch Syndrome UK trustees and all the other people affected by Lynch syndrome. Their achievement in bringing together experts from across the country is considerable, and I hope they can help us to do more and better research into this condition. They were extremely welcoming and I had a really good time, so I’m already looking forward to our next opportunity to get together.”

Tristan and his colleagues at PenTAG are intending to apply for funding to further research Lynch syndrome and other hereditary cancer syndromes, and are looking for patients and members of the public to help design, conduct and report this research. Please contact Tristan directly at T.M.Snowsill@exeter.ac.uk if you are interested.