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A 65-year-old woman presented herself at the hospital with symptoms such as loss of

appetite, cramps, constipation, stains of blood in the stool, and change in the bowel habits. This

necessitated further diagnosis to determine the particulate cause of the patients condition

although the first disease that rang the mind of a medical practitioner was colon cancer.

Colon cancer affects the large intestine, lower parts of the digestive system and at times it

may advance to the rectum to cause what is referred to as colorectal cancer ("Overview - Colon

Cancer - Mayo Clinic," n.d.). Colon cancer is a type of cancer that is inherited from FAP

(familial adenomatous polyposis) through mutated genes in APC (adenomas of the colon) as

explained by Huether & McCance (2012).

Inherited syndrome as a factor

Approximately 5-10% of individuals who develop colorectal cancer normally inherit the

gene defects that are responsible for the family cancer syndrome. The most popular inherited

syndrome affiliated with the colon cancer is the familial adenomatous polyposis (FAP) and the

Lynch syndrome although it has been noted that other rare syndromes can also increase chances

of contracting the disease. FAP is caused by mutations that occur in the APC gene as already

mentioned and this contributes to about 1% of colon cancer. The lynch syndrome, on the other

hand, accounts for approximately 2-4% of the colon cancers. This is caused by an inherited

defect in MLH1 or MSH2 gene (American Cancer Society, 2016).

Pathophysiology of the disease

A major critical step into understanding and finding the correct therapy for a disease is by

performing an accurate diagnosis of the disease. This would involve an understanding of the risk

factors and determining an effective treatment plan. Since colon cancer is hereditary, it is worth
looking at it from the perspectives of molecular genetics. Obtaining some knowledge about

polyp history is important in the pursuit of determining the malignant potential. Most colon

cancers arise from adenomas and patients with FAP stand a higher chance of contracting colon

cancer if colectomy is not performed. To understand about colon cancer, it is important to look at

sporadic cancer that causes genetic mutations contributing to disordered local DNA replication.

With progressive mutations in the genes, a transition from normal mucosa to benign adenoma

occurs (Cappell, 2008).


Since colon cancer has its roots from mutation leading inheritance of the disease, it is

important to understand the autonomy of this disease at cellular level as discussed by Dr. Terry

Buttaro in the Introduction to Advanced Pathophysiology presentation (2012). This would permit

the medical practitioners to gain a deeper understanding of the patients condition. If a medical

practitioner assumed any symptom and just went ahead to perform a diagnosis without thorough

examination, then the patient could stand a risk of experiencing other dire repercussions. As an

inheritable disease, becoming well acquainted with the genetics of this disease particularly the

sporadic part of it and understanding the cellular changes leading to signs and symptoms would

assist in advancing the nurses practice in providing the best therapy for the patients.

American Cancer Society, (2016). Colorectal cancer risk factors. Retrieved 1

December 2016, from


Cappell, M. (2008). Pathophysiology, Clinical Presentation, and Management of Colon Cancer.

Gastroenterology Clinics of North America, 37(1), 1-24.

Huether, S. & McCance, K. (2012). Understanding Pathophysiology (1st ed.). St. Louis, Mo:


Laureate Education, Inc. (Executive Producer). (2012d). Introduction to advanced

pathophysiology. Baltimore, MD: Author.

Overview - Colon Cancer - Mayo Clinic. Retrieved 1 December 2016, from