Genetic factors correlated with survival in colorectal cancer: validation studies in patients from Newfoundland and Labrador

Negandhi, Amit A. (2012) Genetic factors correlated with survival in colorectal cancer: validation studies in patients from Newfoundland and Labrador. Masters thesis, Memorial University of Newfoundland.

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Abstract

Colorectal cancer is a significant health concern in the province of Newfoundland and Labrador (NL) which has the highest age-standardized incidence and mortality rates for colorectal cancer in Canada. Several studies have attempted to identify inherited genetic variants which can serve as independent prognostic markers in colorectal cancer patients. We have conducted such a study in two colorectal cancer patient cohorts (discovery and validation sets) from Newfoundland. We investigated 27 genetic polymorphisms in the discovery cohort and attempted to replicate the positive correlations in the validation cohort. Our results showed that the MTHFR _Glu429Ala polymorphism was associated with worse overall survival in two cohorts albeit with an apparently different pattern of inheritance. An association of the heterozygote genotype of this polymorphism with shorter overall survival was also detected in male patients from both cohorts. Another polymorphism, ERCC5_His46His, was also found to be associated with disease-free survival in these cohorts. Further studies on these polymorphisms may facilitate understanding of the mechanisms behind prognostic differences among colorectal cancer patients and aid in better prediction of clinical outcomes.

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