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B.C. is a man age 44 with complaints in bowel patterns, bloody stools, cramps, gas, and abdominal pain. B.C. has noted unintentional weightloss of 20 pounds and is becoming weaker in strength noting the need for frequent naps, making it difficult to work full days. B.C. comes to clinic to see if a diagnosis can be made or a medication given to help his symptoms go away. He is hopeful to return to work soon as he is his only support system in the home. B.C. reports he has a family history of colon cancer and is concerned. This paper will discuss signs and symptoms of colon cancer, describe how genetics can have an affect on colon cancer, share normal cell function and associated alterations related to mutations in the cell, and explain how the extracellular component is affected.
Signs and Symptoms of Colon Cancer
Colon cancer is the second leading cause of cancer deaths in the United States. (CDC, n.d.) Screenings are available to detect precancer polyps that can be removed before they become cancerous and the recommendation as stated on the Centers for Disease Control (CDC) website is age 50 to start colonoscopy screening and continuing as recommended until age 75 then as directed by your provider after age 76. (CDC, n. d.) Screening may start sooner if there is a close relative with polyp history or colon cancer.
Other bowel problems such as irritable bowel disease and chrons will require earlier screening and monitoring. Signs and symptoms of colon cancer can be abdominal pain, gas, cramps, bloating, change in bowel patterns such as constipation and diarrhea longer than four weeks and rectal bleeding. The later stages of colon cancer can show signs of fatigue, weakness, weightloss, and pencil like stools. (CDC, n. d.) Potential alterations may include mutations in the cell genes that can show hereditary colon cancer.
Familial Adenomatous Polyposis
Familial adenomatous polyposis (FAP) is a type of colon cancer that is inherited genetically. Polyps in the colon can be seen as early as the teenage years, mostly found in the late 30s, but can be delayed until after age 55 as stated by the CDC (n. d.). Delayed presentations of diseases can be quite troubling per Huether and McCance (2017) as many people already have children by this time that now have a 50 percent chance of developing the disorder as well. FAP is an autosomal recessive gene disorder that tends to present with fewer than 100 polyps, and also has a different mutated gene than in classic and attenuated types of FAP. (CDC, n.d.)
The adenomatous polyposis coli or APC is the gene that is mutated in FAP. It is found on the fifth chromosome’s long arm which is noted as the “q arm” and is found at 22.2 the mapping number noted to show how far from the centromere it is found. The location tells the number of polyps and the time frame to cancer. (CDC, n.d.) The APC gene makes the APC protein that acts as a tumor suppressor controlling cell division, attachment to other cells and if it moves within or outside the tissue, it also makes sure the correct number of chromosomes are present in the cell after cell division is completed. The CDC reports there has been 700 mutations found in the APC gene that shortens the proteins made making them dysfunction, unable to control cell growth which can lead to abnormal, cancerous cells.The most common mutation are changes in the deoxyribonucleic acid (DNA) of the APC gene causing a change in the sequencing of the DNA. Huether and McCance (2017) shares changes in the sequences of DNA can lead to mutation changes due to the change in the amino acid sequence of the DNA helix.
Normal Cell Function
Normal cells proceed through meiosis routinely and when correct DNA sequencing is accomplished the cells function normally stopping production of cells when enough have been made and continuing to divide when more cells are needed due to normal cell life cycle or can continue to divide when mutations cause a malfunction that stops or blocks the genes in tumor suppressor genes causing them to overproduce. The overproduction of cells can lead to cancer and hypertrophy of muscles affected. Tumor suppressor genes tell the body when enough cells have been obtained and to stop production if it is altered due to a mutation its tumor suppression ability is lost and tumors can be found (Huether and McCance, n. d.). The intacellular level is the effects of the mutation in the DNA sequencing, while the extracellular component is affected by continuing cell division which leads to unhealthy, ineffective cell functioning and cell death.
In summary, as advanced practice nurses we will need to understand pathology of diseases and how the body is affected by these diseases to know which tests may need to be ordered to diagnose a patient. Along with diagnosis comes the personal factor for the patient in addressing how they may have acquired the disease, will it affect their offspring, and is it a life limiting disease. B.C. that came to clinic has many symptoms of colon cancer, a family history of colon cancer, and taking a complete medical history can lead to genetic diseases and educating the patient toward the future care of them and their offspring and genetic testings that can be done in the prevention of diseases, including colon cancer. Understanding normal cell functions allows us to explain to patients the pathology of their disease in terms they can understand and helps them participate in their care.
Huether, S. E., & McCance, K. L. (2017). Understanding pathophysiology (6th ed.). St. Louis, MO: Mosby.