Robbins & Cotran 10th Ed. Pathology Test Bank | Chapter-
by-Chapter Questions & Verified Solutions
Robbins & Cotran Pathologic Basis of Disease
10th Edition
• Author(s)Vinay Kumar; Abul K. Abbas; Jon C. Aster
Question 1
• Chapter & Section: Chapter 1: The Cell as a Unit of
Health and Disease - The Genome
• Stem: A researcher is studying why individuals with a
similar genetic predisposition for a complex disease like
Type 2 diabetes exhibit different disease outcomes. Which
of the following types of common genetic variations most
likely explains these differences in susceptibility and
presentation?
• Options:
o A) Trinucleotide repeat expansions
o B) Copy-number variations (CNVs)
o C) Monogenic mutations
o D) Chromosomal translocations
,• Correct Answer: B) Copy-number variations (CNVs)
• Rationale:
o Correct: CNVs are a form of structural variation
where sections of the genome are repeated, and the
number of repeats can vary between individuals.
These variations are widespread in the human genome
and can significantly influence gene expression,
protein production, and individual susceptibility to
complex, multifactorial diseases like diabetes,
accounting for variability even among those with a
predisposition .
o Incorrect A: Trinucleotide repeat expansions are
typically associated with specific neurological
disorders (e.g., Huntington disease) and are not the
primary variation underlying common complex
diseases.
o Incorrect C: Monogenic mutations follow a
Mendelian pattern of inheritance and are responsible
for single-gene disorders (e.g., cystic fibrosis), not for
the subtle variability in complex diseases.
o Incorrect D: Chromosomal translocations are often
associated with specific cancers (e.g., Philadelphia
chromosome in CML) and are not a common source
of variation in the general population for diseases like
diabetes.
, • Teaching Point: CNVs are a major source of genetic
diversity that influence susceptibility to common polygenic
diseases.
• Citation: Robbins & Cotran Pathologic Basis of Disease,
10th Ed., Chapter 1: The Genome.
Question 2
• Chapter & Section: Chapter 1: The Cell as a Unit of
Health and Disease - The Genome
• Stem: A patient with a history of malnutrition presents
with findings suggestive of a specific epigenetic alteration.
Which of the following mechanisms describes a reversible
modification that alters gene expression without changing
the DNA sequence itself?
• Options:
o A) A point mutation in a promoter region
o B) DNA methylation of cytosine bases
o C) A frameshift mutation due to deletion
o D) A gene duplication event
• Correct Answer: B) DNA methylation of cytosine bases
• Rationale:
o Correct: DNA methylation is a classic epigenetic
mechanism where a methyl group is added to cytosine
bases, typically leading to gene silencing. This process
is reversible and can be influenced by environmental
, factors like diet, making it a key link between
environment and gene expression .
o Incorrect A, C, and D: These options all describe
changes to the primary DNA sequence itself
(mutations and structural variations), which are not
reversible epigenetic modifications.
• Teaching Point: Epigenetic modifications, like DNA
methylation, reversibly regulate gene expression in
response to environmental cues.
• Citation: Robbins & Cotran Pathologic Basis of Disease,
10th Ed., Chapter 1: The Genome.
Question 3
• Chapter & Section: Chapter 1: The Cell as a Unit of
Health and Disease - Cellular Housekeeping
• Stem: A cell is exposed to a toxin that causes an
accumulation of misfolded proteins within the endoplasmic
reticulum (ER). Which of the following cellular responses
is most likely to be activated initially to manage this stress
and restore homeostasis?
• Options:
o A) Activation of the apoptotic pathway
o B) Unfolded protein response (UPR)
o C) Induction of mitophagy
o D) Upregulation of oncogenes
by-Chapter Questions & Verified Solutions
Robbins & Cotran Pathologic Basis of Disease
10th Edition
• Author(s)Vinay Kumar; Abul K. Abbas; Jon C. Aster
Question 1
• Chapter & Section: Chapter 1: The Cell as a Unit of
Health and Disease - The Genome
• Stem: A researcher is studying why individuals with a
similar genetic predisposition for a complex disease like
Type 2 diabetes exhibit different disease outcomes. Which
of the following types of common genetic variations most
likely explains these differences in susceptibility and
presentation?
• Options:
o A) Trinucleotide repeat expansions
o B) Copy-number variations (CNVs)
o C) Monogenic mutations
o D) Chromosomal translocations
,• Correct Answer: B) Copy-number variations (CNVs)
• Rationale:
o Correct: CNVs are a form of structural variation
where sections of the genome are repeated, and the
number of repeats can vary between individuals.
These variations are widespread in the human genome
and can significantly influence gene expression,
protein production, and individual susceptibility to
complex, multifactorial diseases like diabetes,
accounting for variability even among those with a
predisposition .
o Incorrect A: Trinucleotide repeat expansions are
typically associated with specific neurological
disorders (e.g., Huntington disease) and are not the
primary variation underlying common complex
diseases.
o Incorrect C: Monogenic mutations follow a
Mendelian pattern of inheritance and are responsible
for single-gene disorders (e.g., cystic fibrosis), not for
the subtle variability in complex diseases.
o Incorrect D: Chromosomal translocations are often
associated with specific cancers (e.g., Philadelphia
chromosome in CML) and are not a common source
of variation in the general population for diseases like
diabetes.
, • Teaching Point: CNVs are a major source of genetic
diversity that influence susceptibility to common polygenic
diseases.
• Citation: Robbins & Cotran Pathologic Basis of Disease,
10th Ed., Chapter 1: The Genome.
Question 2
• Chapter & Section: Chapter 1: The Cell as a Unit of
Health and Disease - The Genome
• Stem: A patient with a history of malnutrition presents
with findings suggestive of a specific epigenetic alteration.
Which of the following mechanisms describes a reversible
modification that alters gene expression without changing
the DNA sequence itself?
• Options:
o A) A point mutation in a promoter region
o B) DNA methylation of cytosine bases
o C) A frameshift mutation due to deletion
o D) A gene duplication event
• Correct Answer: B) DNA methylation of cytosine bases
• Rationale:
o Correct: DNA methylation is a classic epigenetic
mechanism where a methyl group is added to cytosine
bases, typically leading to gene silencing. This process
is reversible and can be influenced by environmental
, factors like diet, making it a key link between
environment and gene expression .
o Incorrect A, C, and D: These options all describe
changes to the primary DNA sequence itself
(mutations and structural variations), which are not
reversible epigenetic modifications.
• Teaching Point: Epigenetic modifications, like DNA
methylation, reversibly regulate gene expression in
response to environmental cues.
• Citation: Robbins & Cotran Pathologic Basis of Disease,
10th Ed., Chapter 1: The Genome.
Question 3
• Chapter & Section: Chapter 1: The Cell as a Unit of
Health and Disease - Cellular Housekeeping
• Stem: A cell is exposed to a toxin that causes an
accumulation of misfolded proteins within the endoplasmic
reticulum (ER). Which of the following cellular responses
is most likely to be activated initially to manage this stress
and restore homeostasis?
• Options:
o A) Activation of the apoptotic pathway
o B) Unfolded protein response (UPR)
o C) Induction of mitophagy
o D) Upregulation of oncogenes
