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National Lynch Syndrome Registry


HDI worked with the Institute of Genetic Medicine at Newcastle University and Public Health England to help establish a national Lynch Syndrome Registry to support patients and researchers.

Further details:

People with a faulty copy of one of the main MisMatch Repair (MMR) genes are more prone to developing colorectal and other cancers at a young age. Research has shown that there could be over 200,000 people in the UK with this genetic predisposition yet fewer than 10,000 have been identified. Regular surveillance is cost effective and reduces cancer incidence and deaths. By obscuring patient identifiers (NHS number and date of birth) with a highly complex and effectively “unbreakable” code it is possible to cross match DNA test results to the UK national cancer registry. This then allows investigation of the cancer rates in gene carriers without compromising their identity.

This project will:

  • Help to establish the natural history of Lynch syndrome by prospective analysis of cancer development
  • Demonstrate low cost monitoring of potential pathogenicity in variants of uncertain significance or those adjudged probably benign
  • Provide proof of principle that anonymised record matching can provide quality control in the care of people with rare hereditary cancers
  • Provide a baseline for future approaches to development of consented NHS registries

In collaboration with:

Bowel Cancer UK; Newcastle University;

Further details of this project available here.


2018 – 2021


Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial, The Lancet, volume 395, Issue 10240, 13–19 June 2020, Pages 1855-1863

Cook S, Pethick J, Kibbi N, Hollestein L, Lavelle K, de Vere Hunt I, Turnbull C, Rous B, Husain A, Burn J, Lüchtenborg M, Santaniello F, McRonald F, Hardy S, Linos E, Venables Z, Rajan N. Sebaceous carcinoma epidemiology, associated malignancies and Lynch/Muir-Torre syndrome screening in England from 2008 to 2018. J Am Acad Dermatol. 2023 Apr 7:S0190-9622(23)00536-4. doi: 10.1016/j.jaad.2023.03.046. Epub ahead of print. PMID: 37031776.

Associated Publications:

Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway

Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline ...

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020

Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie ...

Image by Jerome Walker – Own work, CC BY 2.5, https://commons.wikimedia.org/w/index.php?curid=954558

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