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National Lynch Syndrome Registry


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