Question 1
A patient is 34 years old and concerned about possibly being a carrier for HNPCC because his
father died of colon cancer at 39, his
... [Show More] father’s sister died of colon cancer at age 41, and his
brother (aged 37) now has colon cancer. The brother’s testing is negative for all the known
mutations associated with inherited forms of colon cancer. How should this patient be
counseled about his risk for colon cancer?
Select one:
a. Explain that testing for him would be of no benefit because of the current test limitations but
that his family history does place him a high risk.
b. Explain that his risk is not related to his brother’s diagnosis because he did not inherit any
genes from him but that since his father is a first-degree relative, testing should be considered.
c. Explain that because the brother with cancer is negative for these gene mutations, this cancer
is most likely sporadic and his risk is the same as general population risk.
d. Explain that he could benefit from testing even though his brother is negative for these
mutations because reduced penetrance might account for his negative status.
Question 2
Which type of genetic testing is the most sensitive method for detecting any mutation in a
specific gene?
Select one:
a. Direct DNA sequencing
b. Immunohistochemistry
c. Fluorescence in situ hybridization
d. Banded chromosomal analysis
Question 3
Which tissue is most likely to provide an adequate DNA sample for genetic testing?
Select one:
a. A mummy’s tooth
b. Nasal epithelial cells
c. Mature red blood cells
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d. Distal ends of hair shafts
Question 4
Which lethal cardiac arrhythmia can occur as a complication of long QT syndrome?
Select one:
a. Atrial node reentry tachycardia
b. Prolonged atrial fibrillation
c. Torsade de Pointes
d. Mitral valve prolapse
Question 5
What would be the expected response to a skin injury if the involved tissue had lost the normal
cell characteristic of contact inhibition?
Select one:
a. Excessive growth of replacement tissue
b. Replacement with scar tissue rather than skin
c. Failure of the wound to close
d. Displacement of skin cells into other body tissues
Question 6
What would be the patient’s response to a normal drug dose that because of a genetic variation
in an enzyme that prepares the drug for elimination results in a blood drug level that is below
the minimum effective concentration (MEC)?
Select one:
a. The drug’s duration of action is longer than expected.
b. The risk for toxic side effects is increased.
c. Drug entry exceeds drug elimination
d. The intended response fails to be produced.
Question 7
Which statement best describes the role of tumor suppressor genes in cancer development?
Select one:
a. Tumor suppressor genes control or modify the activity of oncogenes, reducing the risk for
cancer development.
b. The presence of tumor suppressor genes increases the risk for gene damage by
environmental carcinogens.
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c. Tumor suppressor genes are a type of oncogene that is only active in germ line cells and
tissues.
d. Tumor suppressor genes reduce/suppress immune function, increasing the risk for cancer
development.
Question 8
What is the best description of the genetic contribution to onset of autism?
Select one:
a. Autism spectrum is caused by a single gene mutation in most, but not all, cases.
b. Known causes of autism spectrum include copy number variants and chromosomal
problems.
c. Autism spectrum disorders have a much stronger environmental input than genetic input to
expression of the phenotype.
d. Exposure to a teratogen can be a cause of autism spectrum in many cases.
Question 9
What should be told to the patient who has been found to have a genetic mutation that
increases the risk for colon cancer and says he does not want any of his family to know about
this result?
Select one:
a. “It is not necessary to tell your siblings because they are adults, but you should tell your
children so they can be tested before they decide to have children of their own.”
b. “It is not required that you tell anyone about this result; however, because your siblings and
children may also be at risk for colon cancer, you should think about how this information might
help them.”
c. “It is your decision to determine with whom, if anyone, you share this test result; however, if
you do not tell any of your family members and they get colon cancer, you would be responsible
for their developing the disease.”
d. “It is required by law that you inform your siblings and your children about this result so that
they also can be tested and monitored for colon cancer.” [Show Less]