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Title: Prevention of colorectal cancer in Scotland : strategies for those at increased genetic risk
Author: Mitchell, R. J.
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 2004
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The identification of people at increased genetic risk of colorectal cancer and the provision of appropriate clinical screening represents one approach to the prevention of colorectal cancer in the Scottish population. This thesis aims to contribute to current knowledge regarding the available tools for identifying those at increased genetic risk in a population, namely genetic testing and family history assessment. Key issues relating to the use of family history in this context were addressed through the analysis of a unique data set, comprising family history information reported by a colorectal cancer case or control subject at interview and the results of record linkage of this data to the Scottish Cancer Registry. Retrospective family history case-control analysis showed that individuals with an affected first-degree relative were at increased risk of developing colorectal cancer (ORMH 2.14, 95% CI = 1.11, 4.14). Prevalence of such a family history in control subjects was 9.4% (95% CI = 4.9, 13.9). Substantial under-reporting of family history was evident, with sensitivity of interview as a means of determining a history of colorectal cancer in a first-degree relative being approximately 0.55 for both cases and controls. These studies illustrate the potential advantages of targeting people with a family history, but also highlight some of the limitations of such an approach. The genetic epidemiology of the mismatch repair genes hMLH1 and hMSH2 and their association with colorectal cancer were considered in a systematic literature review. Although conventional epidemiological studies are lacking, there is compelling evidence to implicate mutations in these genes in the aetiology of a sub-set of colorectal cancers, with penetrance of approximately 80% in males and 40% in females. This review indicates that carriers of mismatch repair gene mutations merit particular consideration in the context of colorectal cancer prevention through targeting people at increased genetic risk.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available