Genome-wide association studies investigating a histological variant and time-to-metastasis of colorectal cancer

Penney, Michelle (2018) Genome-wide association studies investigating a histological variant and time-to-metastasis of colorectal cancer. Masters thesis, Memorial University of Newfoundland.

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Abstract

Colorectal cancer is a common and complex disease with significant impact on patients and their families. Despite the extensive research conducted on this disease, there is still significant variability in tumor characteristics and disease outcomes. The unknown variability may be explained, in part, by germline genetic variations. This dissertation aimed to identify genetic polymorphisms associated with colorectal cancer tumor histology as well as with the long-term risk and/or timing of metastasis in colorectal cancer using appropriate study designs and statistical methods. As a result of these comprehensive analyses, we identified a set of polymorphisms that significantly increase the discriminatory accuracy of a model for distinguishing between mucinous and non-mucinous colorectal tumors. In addition, we identified ten polymorphisms significantly associated with time-to-metastasis of colorectal cancer after adjusting for significant baseline characteristics. Once replicated, these results could assist in better understanding the complex biological mechanisms behind colorectal tumor histology and distant metastasis.

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