Exploring the impact of polygenes on genetic inheritance model identification, with application to Familial Colorectal Cancer Type X (FCCTX)

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2017
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Abstract
Although a genetic inheritance pattern has not yet been identified, there seems to be a hereditary component for some types of cancer. The focus of this thesis is on identifying the factors that enable correct identification of genetic inheritance models. Exploring this topic involved complex segregation analysis on real FCCTX cancer registry data, then on simulated data (based on the real data characteristics) to determine what caused the model to be identified. If a strong polygenic effect is present, finding evidence for the correct genetic model is more likely. However, the correct model was identified roughly 50% of the time, so more factors should be explored. If the genetic inheritance pattern of a disease is identified, this would facilitate identifying the gene mutation in question, especially with rapidly advancing genomic technology. This work can be applied to other cancers, and can encourage exploration of non-Mendelian genetic inheritance.
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Citation
Scory, T. (2017). Exploring the impact of polygenes on genetic inheritance model identification, with application to Familial Colorectal Cancer Type X (FCCTX) (Master's thesis, University of Calgary, Calgary, Canada). Retrieved from https://prism.ucalgary.ca. doi:10.11575/PRISM/26109