Dr Richard Gallon (2024 – £9,800)
Research Associate, Newcastle University Translational and Clinical Research Institute
Board Member of the Care for CMMRD consortium
Scientific Board Member for the Prospective Lynch Syndrome Database
Conference Organisation Committee Member for the European Hereditary Tumour Group
Co-founder of the UK Replication Repair Deficiency National Advisory Panel
Funding Information
Validation of a low-cost and high throughput assay for Lynch syndrome screening in patients with cutaneous sebaceous tumours
Lynch syndrome is the commonest cause of cancer running in families, particularly cancers of the bowel and womb as well as a rare type of skin tumour of the sebaceous glands. People who have Lynch syndrome benefit from life-saving cancer prevention and routine cancer surveillance, but less than 10% have a diagnosis.
The NESRF award is supporting my research into the application of a novel diagnostic test for sebaceous tumours to screen for Lynch syndrome. This test, the Newcastle MSI-Plus Assay, was initially developed for automatable, low cost, and high-throughput analysis of bowel cancers and is currently used by the NHS to test over 5000 bowel cancers each year. Showing it can also be used in sebaceous tumours will allow streamlining of clinical practice by incorporating sebaceous tumour testing into established diagnostic pipelines, ultimately leading to increased Lynch syndrome diagnoses.
This project feeds into a broader campaign to improve Lynch syndrome screening of patients with sebaceous tumours as well as my ongoing and future research to improve the detection and care of mismatch repair deficiency-related cancer syndromes.
Acknowledgements
References
Gallon R, Holt G, Alfailakawi W, Husain A, Jones C, Sowter P, Santibanez-Koref M, Jackson MS, Burn J, Cook S, Rajan N. A novel microsatellite instability test of sebaceous tumours to facilitate low cost universal screening for Lynch syndrome. Clin Exp Dermatol. 2025 Jan 23:llaf005. https://doi.org/10.1093/ced/llaf005
Rajan N, Cook S, Best K; Lynch Syndrome UK Sebaceous Carcinoma group; Monahan K. Universal testing of cutaneous sebaceous carcinoma: a missed opportunity in Lynch syndrome detection. Lancet Oncol. 2024 Jan;25(1):e1-e2. https://doi.org/10.1016/S1470-2045(23)00595-8
Gallon R, Herrero-Belmonte P, Phelps R, Hayes C, Sollars E, Egan D, Spiewak H, Nalty S, Mills S, Loo PS, Borthwick GM, Santibanez-Koref M, Burn J, McAnulty C, Jackson MS. A novel colorectal cancer test combining microsatellite instability and BRAF/RAS analysis: Clinical validation and impact on Lynch syndrome screening. BJC Rep. 2024;2(1):48. https://doi.org/10.1038/s44276-024-00072-8
