Creation, curation, and utility of public health genomics datasets for Lynch syndrome
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Embargo End Date
2025-11-18
ICR Authors
Authors
Huntley, C
Document Type
Thesis or Dissertation
Date
2025-11-18
Date Accepted
Abstract
This thesis will describe methods of dataset planning, creation, and curation for genomic, clinical, and epidemiological data in Lynch syndrome, and demonstrate the utility of such data for healthcare provision, system audit, and medical research.
In the first chapter, I will outline the inception of two new Lynch syndrome datasets – a germline genomics dataset containing details of all germline genetic testing taking place in England, and a National Lynch Syndrome Registry containing demographic and genetic data on all known Lynch syndrome carriers in England. I will also provide a description of their contents and what this tells us about the epidemiology of Lynch syndrome in England.
In the second chapter, I will demonstrate the utility of the germline genomic dataset by using it (along with additional existing datasets) to describe the patterns of Lynch syndrome testing in endometrial cancer in England in 2019, and investigate factors that are associated with an increased likelihood of testing.
In the third chapter, I will demonstrate the utility of the Lynch Syndrome registry by using it as a study cohort to explore the distribution of surveillance colonoscopies in the Lynch syndrome population, and assess the impact of surveillance colonoscopies on colorectal cancer incidence and mortality.
Citation
2025
DOI
Source Title
Publisher
Institute of Cancer Research (University Of London)
ISSN
eISSN
Collections
Research Team
Translational Genetics