case study bio

I need someone to do this homework:

you have to follow exactly what it says to do in your own words.

here is the link to the article that you have to read and and answer the following question below in description.





Gastric Cancer Case Study                                                               




First, download and read the case study posted on the Moodle site.  This article was originally published in the New England Journal of Medicine.  The readers of this journal are primarily practicing physicians, so some parts of the paper might be hard to understand.  You should, however, be able to understand the genetics of the condition described in this patient.


Once you have read the paper, answer each of the questions below.  Note that your work must be in your own words (consult the syllabus for the course policy on plagiarism).  You should type your responses directly into this document and upload the file to through the appropriate link on our Moodle site by the due date.


1.  The assigned article is a case study.  Briefly explain what the term “case study” means.  Is a case study considered to be a primary or a secondary source?



2.  This paper describes the inheritance of a dominant, highly penetrant susceptibility to breast and gastric cancer in an extended family. While cancer phenotype that is transmitted through this family can be described as highly penetrant, it is not completely penetrant.  Briefly define what incomplete penetrance is, then suggest reasons why this condition might not be completely penetrant.



3. The study of the inheritance of specific genes causing cancer has been extremely useful in understanding the biology of cancer, but most cancer does not run in families.  Choose either breast or gastric cancer and find an estimate for the percentage of cancer cases that are genetic.  List the source of your information and comment on the reliability of your source.



4.  Consider the patient’s medical history as described in the case study and the pedigree in figure 1.  What is it in the patient’s medical history that led her to be referred to a genetic counselor?



5.  Noting the pattern of inheritance of breast and gastric cancer in this family, several genetic syndromes were considered as possible causes (see table 1).  Choose one gene (other than CDH1) and find a peer-reviewed review article that summarizes the current understanding of that gene’s role in causing cancer.  Give the complete reference for the source you found (authors, date, title, journal and pages).  You do not need to summarize the review that you find – the exercise is to find it.



6.  Referring to the pedigree and noting that the patient was eventually diagnosed as having gastric cancer, comment on the risk that each of the patient’s children faces.



7.  The patient was found to carry the R732Q mutation in the CDH1 gene.  Briefly explain what “R732Q” means.



8.  Consider the patient’s situation once a genetic test showed she was carrying the mutated CDH1 gene.  What are your thoughts on the decision she faced?  àeither risk gastric cancer (which has a very low cure rate once diagnosed), or have prophylactic removal of her entire stomach, likely limiting her quality of life indefinitely.  Would you have done the same thing? 



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