Hello!
My name is Jennifer Dodds, and my passion is genetics. I'm currently enrolled in a summer course through UIUC for which I had to pick a genetic/genomic disease/disorder to study. After some initial research on genetic diseases, I decided to look into genetic forms of colon cancer. Colon cancer runs rampant in my mother's family--I've lost both maternal grandparents and an aunt to the disease, and from what I understand, the disease stretches further back in my family's medical history.
As it turns out, there is a hereditary form of colon cancer known as Familial Adenomatous Polyposis, or FAP, colon cancer. This form of cancer is responsible for only 1-3% of yearly colon cancer cases but is almost always the result of mutation within a single gene, the tumor suppressor protein APC (Adenomatous Polyposis Coli).
Over the course of the next week, I'll be updating this blog near-daily to include information concerning the discovery of FAP and APC, the gene responsible, the disease's inheritance patterms, symptoms of FAP, and other probabilities and statistics surrounding the disease. Later, I'll discuss the APC in greater detail, including its role in the Wnt signaling pathway and other processes, keeping up to date with the most current APC and FAP colon cancer research. I will also identify various binding sites (i.e. promoter, enhancer, repressor) and locations for post-translational modifications that affect the protein's functional state.
Once the APC gene has been broken down to the best of my ability, I will go into more detail concerning how non-functional APC protein products result in FAP. More information will also be given concerning the Wnt signaling pathway and how beta-catenin build-up in the nucleus may be responsible for tumorigenesis.
Since I am a genetics student with a huge interest in human genome sequencing, I will talk about the APC genes of two scientific legends, James Watson and J. Craig Venter, who have both had their entire genomes sequenced and made available to the public. I will also try to discuss various SNPs, haplotypes, and GWAS studies that have elucidated more information about FAP and APC gene function.
At this point, I will include any miscellaneous information that I feel is interesting or necessary to the understanding of this disease. This will likely include a phylogenetic tree of the APC gene among a few different species to demonstrate the evolutionary divergence of this gene (it is relatively well-conserved) and to shed some light as to which species make for the best models in studying FAP as a result of APC mutations. In this part of the blog, I would also like to try to assemble a list of research groups, individuals, and organizations that are currently responsible for the study of this disease and its corresponding gene.
A discussion of current diagnosis and screening, prevention, and treatment methods will conclude the FAP colon cancer blog. This section will include information about genetics counseling for the APC gene as well as the most current surgeries to treat colon cancer. There is also a surgery available that attempts to entirely prevent cancer formation by removing the entire colon (large intestine), and this will be discussed here, too.
Throughout the entire blog, I will provide sources for my information, and I will link out my sources in situations where there is an abundance of information available through an easily-accessible site.
That concludes the introduction to my first ever blog, FAP Colon Cancer! Stay tuned for more information!!
