Lynch Syndrome Registry research summary

Overview

The Lynch Syndrome Pilot Registry is a research database compiling the data of over 250 patients with Lynch Syndrome. This data is used to conduct studies into the clinical management and patient experiences of people with Lynch Syndrome.

Background

Lynch Syndrome is a hereditary cancer syndrome affecting between 1 in 125 and 1 in 400 people.  It is especially associated with an elevated colorectal cancer and endometrial cancer risk, but also an increased risk of others such as ovarian, gastric and hepatobiliary cancers.  Lynch Syndrome arises from germline mutations in mismatch repair genes MLH1, MSH2, MSH6 and PMS2, or variants of EPCAM.

Despite its high prevalence and a lifetime colorectal cancer risk of 80% without surveillance, Lynch Syndrome is ‘under-recognised, under-diagnosed and under-managed’, as highlighted in the British Medical Journal by numerous experts in the field. In the United Kingdom, there are only 6,000 known Lynch Syndrome patients, however, it is estimated that there are around 180,000 undiagnosed cases.

Given their high lifetime colorectal cancer risk, Lynch Syndrome patients should undergo colonoscopy surveillance, with national guidelines recommending that this occurs every two years. The surveillance of Lynch Syndrome patients varies significantly across the UK with many not having their recommended surveillance colonoscopies.

We created this registry to research into how these patients are being monitored and managed, and how the variation in care and experience of Lynch Syndrome patients can be improved.

Method

The registry recruited patients with a confirmed genetic diagnosis of Lynch Syndrome from four participating sites in England who had previously consented to the Cancer Prevention Programme Project 3 (CaPP3) trial. Around 250 patients were recruited.

Participants were sent a baseline health questionnaire and additional Lynch Syndrome-related medical data and surveillance information, including colonoscopy data, was manually collected from sites by local research staff. We are working with the National Disease Registration Service who will provide data verification, additional data on cancers and deaths (cause and date), and cancer registration data, including staging information. 

Current research

We recently conducted a questionnaire-based study on patient adherence to the 2-yearly surveillance colonoscopy schedule. The study also examines the challenges that face Lynch Syndrome patients and how those challenges may impact their ability to attend colonoscopies. We are currently processing this data and intend to publish our results soon.