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22nd March 2024 was Lynch Syndrome Awareness Day. Lynch syndrome (LS) is an inherited condition that causes an increased risk of several cancers – mainly cancers of the large bowel and the endometrium (womb lining), but people with LS are also at elevated risk of other cancers, for example those of the upper gut (e.g. stomach, duodenum, pancreas), bladder, ovary and the sebaceous glands of the skin. LS is caused by harmful variants in the mismatch repair (MMR) genes. If the MMR machinery is not working properly, a person’s body cells have limited ability to correct DNA mutations, so cancer is more likely to develop.
People with LS are offered regular screening by colonoscopy, so that bowel cancers can be detected at an earlier, more treatable stage. However, it is thought that only 5% of people with LS have been diagnosed, so there is a real need to identify the other 95%.
The Genomics Team within NDRS has a number of workstreams related to LS, where we are making a difference to patient care:
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with our collaborators at Newcastle University, we used cancer registration records to follow up LS patients who took part in the CAPP2 trial of aspirin and resistant starch. This work showed that aspirin taken for two years halved the risk of bowel cancer over the next decade. Resistant starch prevented 60% of cancers of the upper gut.
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our cancer registration officers record all MMR tests on tumours, and we have also collected and processed data from genetics labs testing for inherited variants in the MMR genes. By linking all these data together in the national cancer registry, we have mapped out the patient’s entire diagnostic journey, and highlighted geographical differences in implementation of NICE guidelines for MMR testing.
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we have established the National Lynch Registry, so now have details of everyone in England who has been diagnosed with LS. Each time a new diagnosis is made, the clinical geneticist will add the new patient to the registry – a simple task, thanks to our award-winning data upload portal. Every day, we send the LS patient details to the National Bowel Cancer Screening Programme (BCSP), who invite people with LS for regular colonoscopy. This single national system was launched in summer 2023, and has resolved the historical problem of regional inequities in how LS patients were recalled for colonoscopy.
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other collaborative work with dermatologist colleagues has generated evidence that sebaceous skin tumours should be tested for MMR deficiency. We have used this evidence to request addition of this indication to the National Genomic Test Directory.
Members of our team regularly attend the Lynch Syndrome UK patient conference – this year held in Warwick on Saturday 23rd March. We value the opportunity to interact with the patients we serve, and to speak with them about our work, their experiences, and the importance of their healthcare data to improve NHS care. Dr Fiona McRonald, Genomics Programme Manager was one of those who attended. “At this year’s conference, three speakers in a row emphasised that their work was dependent upon NDRS data. When the third speaker highlighted this, the audience (which consisted predominantly of Lynch syndrome patients and their families) broke out into a spontaneous round of applause for NDRS! It was such a privilege to receive such enthusiastic appreciation of our work by people with Lynch syndrome.”
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