Familial adenomatous polyposis

Causes

What gene change/mutation/etc causes familial adenomatous polyposis?

The main gene associated with FAP is APC. Harmful changes (mutations) in the APC gene cause an increased risk for multiple polyps in the colon and/or colon cancer and these gene mutations run in families. Most of the time if an individual has standard FAP they will have an identifiable mutation in the APC gene. However, if someone has attenuated FAP they will an identifiable mutation, or change, in this gene only 30% of the time. Another gene that runs in families, MUTYH, can also cause multiple colon polyps and/or colon cancer, but does not tend to be associated with other tumors outside of the colon. Still other genes that may cause FAP have yet to be identified.

References
  • Jasperson, K. W. (2017, February 2). APC-Associated Polyposis Conditions. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK1345/.
  • Nielsen, M. (2019, October 10). MUTYH Polyposis. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK107219/.
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What happens when you have a gene change in the APC gene?

What happens when you have a gene change in the MUTYH gene?

Does anything make familial adenomatous polyposis worse?

Is familial adenomatous polyposis a predisposition or a cause for developing certain cancers?

What happens when you have a gene change in the APC gene?

The APC gene provides instructions for making the APC protein. The APC protein plays an important role in multiple different cell functions. The APC protein normally acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. The APC protein also helps control how often a cell divides, how it attaches to other cells within a tissue, and helps to make sure the correct number of chromosomes (the structures that contain the genes) are present in a cell. APC also works together with other proteins, including a protein called beta-catenin. Beta-catenin helps to promote cell division and growth and helps control activity of certain genes. If there is a mutation, or change, in the APC gene the protein cannot stop cellular overgrowth and this can lead to the formation of polyps in the colon, which can become cancerous. APC is one gene that when changed can cause familial adenomatous polyposis, an increased risk for colon cancer and multiple polyps in the colon that runs in the family.

References
  • APC gene - Genetics Home Reference - NIH. (2019, November 12). Retrieved from http://ghr.nlm.nih.gov/gene/APC.
What happens when you have a gene change in the MUTYH gene?

The MUTYH gene provides instructions for an enzyme (type of protein) called MYH-glycosylase, which is involved in DNA repair. This enzyme helps to correct mistakes that are made when DNA copies itself before the cell divides, and it helps fix mistakes so that mutations do not accumulate in the DNA and lead to the development of a tumor. If there is a change in the MUTYH gene, cells are unable to correct mistakes in the DNA, so the body cannot protect itself from developing tumors as well as it normally should. Because of this, MUTYH is a gene that when changed can cause familial adenomatous polyposis, an increased risk for colon cancer and multiple polyps in the colon that runs in the family.

References
  • MUTYH gene - Genetics Home Reference - NIH. (2019, November 12). Retrieved from http://ghr.nlm.nih.gov/gene/MUTYH.
Does anything make familial adenomatous polyposis worse?

There are some risk factors that increase the risk for developing colon polyps and colon cancer which include: age, gender (males are more likely to develop colon cancer), a high body mass index (BMI), family history of colon cancer/polyps, alcohol use, smoking, diabetes (Type II is associated with a higher risk), dietary factors (red meats, processed meats, and fat increase risk, whereas fruits, veggies, and fiber decrease risk), ethnicity (African Americans have higher risk to develop colon cancer), having an inflammatory bowel disease (Crohn's disease or ulcerative colitis), and radiation exposure to the lower abdomen. More information about these risk factors can be through the American Cancer Society webpage.

References
  • Colorectal Cancer Risk Factors. (n.d.). Retrieved from http://www.cancer.org/cancer/colonandrectumcancer/detailedguide/colorectal-cancer-risk-factors.
  • Schneider, K. (2013). , 3rd Ed.
  • Wei, E.k, Giovannuci, E., Wu, K., Rosner, B., Ruchs, C.S., Willet., W.,C & Colditz, G. A. (2004). Comparison of risk factors for colon and rectal cancer. International journal of cancer, 108(3), 433-442.
Is familial adenomatous polyposis a predisposition or a cause for developing certain cancers?

Having familial adenomatous polyposis is a predisposition for developing colon polyps and colon cancer. There is also a predisposition for developing other cancers including: small intestinal cancer, pancreatic cancer, thyroid cancer, and hepatoblastoma (tumor of the liver) in children. Having a mutation in the APC genes does not guarantee someone will develop cancer.

References
  • Galiatsatos, P., & Foulkes, W. D. (2006). Familial adenomatous polyposis. The American journal of gastroenterology, 101(2), 385-398.
  • APC gene - Genetics Home Reference - NIH. (2019, November 12). Retrieved from http://ghr.nlm.nih.gov/gene/APC.

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