Population-based study of lynch syndrome in Newfoundland

Williams, Phillip A. (2008) Population-based study of lynch syndrome in Newfoundland. Masters thesis, Memorial University of Newfoundland.

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Abstract

Lynch Syndrome is an autosomal dominant condition causing predisposition to various cancers, primarily colorectal cancer (CRC). This syndrome is caused by mutations in DNA mismatch repair (MMR) genes. MMR mutations have been previously identified in the Newfoundland population and the province of Newfoundland and Labrador has one of the highest age standardised rates of CRC in Canada. The Newfoundland Colorectal Cancer Registry (NFCCR) is a population-based registry of CRC cases in Newfoundland from 1999-2003. Patients from the NFCCR were screened for MMR mutations. 13 pathogenic mutations were identified in 740 cases in the NFCCR. This corresponds to an incidence of Lynch Syndrome of 1.8% of CRC cases in the NFCCR. In addition, all published literature concerning Lynch Syndrome was reviewed to construct and maintain a web-based public catalogue of MMR mutations as a resource for determining the pathogenicity of any variants identified in this and future works.

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