LQN301 Assessment 1Please consider the following family: Individual III.i is 30 years old and presents with advanced metastatic colorectal carcinoma. Family history reported a maternal first cousin,...

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LQN301 Assessment 1Please consider the following family:
Individual III.i is 30 years old and presents with advanced metastatic colorectal carcinoma. Family history reported a maternal first cousin, once removed (II.i), who is also said to have had bowel cancer as a young man. This man is estranged from the family and his health and whereabouts is unknown. It was recommended that the three intervening individuals have colonoscopies. Individual I.i (60 years of age) was found to have tens of thousands of tubulovillous colorectal adenomas. Individual I.ii (70 years of age) was found to have about ten adenomas and a carcinoma in situ in the ascending colon. Individual II.iii (50 years of age) had three tubulovillous adenomas. Please discuss the possible cancer predisposition(s) seen in this family, referencing the literature to support your assessment. Next, outline what further phenotypic information in this family may help you come to a diagnosis and why. Finally, please outline an approach to genetic testing which may help clarify your hypothesis. Be sure to discuss which individual(s) and which tissue(s) you would test. Outline which gene(s) you would like to test and which molecular methods you would employ. Please reference the literature and appropriate guidelines to support your chosen approach.
I think the best way to approach the assignment is think of it as an opportunity to show how much you understand about colon cancer predisposition syndromes and discuss how does the pattern of inheritability and phenotype inform possible candidates. What syndrome/s could it be? How would you go about confirming your possible diagnosis e.g. which people and which gene/s and which molecular method/s would you employ?
Answered Same DayMay 01, 2021LQN301Queensland University of Technology

Answer To: LQN301 Assessment 1Please consider the following family: Individual III.i is 30 years old and...

Malvika answered on May 04 2021
152 Votes
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LQN301 Assessment 1
Synopsis of the Information
The information given about the family clearly indicates a predisposition towards cancer. The individual under study is a 30-year-old male who has advanced metastatic colorectal cancer. In the family history it has been observed that one maternal cousin had the same cancer that has been removed once and he also had bowel cancer when he was young. The diagnosis of cancer in the indiv
idual under study led to the colonoscopies of his mother and her father and brother of the father i.e. the three intervening individuals. After the colonoscopy, it was observed that the maternal grandfather (I.ii) of the individual had ten adenomas and a carcinoma in the ascending colon. The brother of maternal grandfather (I.i) had many tubulovillous colorectal adenomas. The mother of the individual (II.iii) had three tubulovillous adenomas.
Cancer Predisposition of the Family
Cancer
Cancer has been defined as the condition in the body in which certain cells of the body grow and divide in uncontrolled manner. These cells also have the ability to infiltrate and destroy the normal cells of the body. Thus, cancer has the ability to spread all through the body mostly. Statistics state that cancer is the second most common cause of death all around the globe according to Siegel (2019). Since the advancements in the cancer screening and treatment programs, the survival rates of many forms of cancer are improving. The most common cause of cancer are the mutation of DNA in the cells. Each ell in human body has DNA which carry the code for protein production or expression of traits. Mutations are the sudden changes in the DNA which changes the code of information. Thus mutations in the DNA of any cell can bring abnormality in the body. The gene mutations could cause the cell to grow rapidly, grow uncontrollably and even make mistakes in repair of DNA errors.
Causes of Cancer
Gene mutations may occur due to several reasons like sometimes we are born with the mutations and some mutations occur in our lifetime. All the causes of gene mutations are not known but scientists have identified many causes and risk factors that lead to mutations in the gene mentioned Tomasetti (2017). Cancer may occur when the mutation that one is born with start acting with the mutations that once acquires during his lifetime. This can be explained by the following method – if any person is born with a cancer-causing gene that does not mean that he will surely get cancer. Any individual needs more than one gene mutation to have cancer. There is a possibility that any person with an inherited gene mutation has higher chances of getting cancer when exposed to cancer-causing substances in comparison to someone who has no such inherited gene mutation.
Colon Cancer
The human digestive system or gastrointestinal tract contains six main organs and large intestine is one of them. The large intestine is divide in three main parts i.e. the caecum, colon and rectum. Colon is considered to be the final part of digestive tract and colon cancer occurs in this part. Data suggests that colon cancer may occur in any age but it typically affects older adults mentioned Balakrishnan (2017). The colon cancer starts when some unusual small, noncancerous clumps of cell start forming inside the colon and they are called polyps. Over the time some of these polyps can transform into colon cancers according to the research by Benson (2018). Colon cancer is also known as colorectal cancer and can be treated with surgery, radiation therapy and drug treatments (chemotherapy, targeted therapy and immunotherapy).
Risk Factors and Prevention
Though the doctors are unsure about the causes of colon cancer, gene mutations have been considered as the most common and acceptable reason. There are many factors explained by Padmanabhan (2018) that can increase the risk of colon cancer like-
1) Age – though colon cancer can be diagnosed at any age, most of the cases are above 50 years.
2) Ethnicity – the people from African-American race have a higher predisposition towards colon cancer.
3) History – any person who has a history of noncancerous polyps or colon cancer, then the chances of getting colon cancer increase.
4) Intestinal Condition – certain conditions of the intestines like ulcerative colitis or Crohn’s disease could increase the risk of colon cancer.
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