Robbins Basic Pathology
10th Edition
Author(s)Vinay Kumar; Abul K. Abbas;
Jon C. Aster
TEST BANK
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A 2-year-old boy has recurrent infections and failure to thrive.
Genetic testing shows a loss-of-function mutation in a gene
required for DNA repair. Which cellular consequence best
explains increased cancer risk in this patient?
Options
A. Increased mitochondrial ROS production leading to apoptosis
,B. Accumulation of mutations from defective DNA repair
leading to genomic instability
C. Loss of extracellular matrix proteins causing tissue barrier
failure
D. Persistent activation of growth factor receptors causing
hypertrophy
Correct Answer
B
Rationales
Correct (B): Defective DNA repair allows mutations to
accumulate over time, producing genomic instability and
increasing malignant transformation risk. Robbins emphasizes
that accurate maintenance of the genome prevents mutation
accumulation and cancer.
Incorrect (A): Mitochondrial ROS and apoptosis are linked to
cell injury, but do not directly explain genomic mutation
accumulation from repair defects.
Incorrect (C): ECM defects affect tissue architecture and wound
healing but are not the primary mechanism linking DNA repair
defects to cancer.
Incorrect (D): Growth factor receptor activation can promote
proliferation, but the hallmark in DNA repair syndromes is
mutation accumulation, not receptor hyperactivity.
Teaching Point
DNA repair defects → mutation accumulation → genomic
instability → cancer risk.
,Citation (simplified APA)
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
studylib.net
2
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A researcher studies long noncoding RNAs (lncRNAs) and finds
altered expression in a tumor. Which functional effect of lncRNA
dysregulation is most consistent with tumor development?
Options
A. Direct coding for oncoproteins
B. Epigenetic regulation of gene expression leading to altered
transcriptional programs
C. Increasing mitochondrial ATP production
D. Serving as a structural component of collagen fibers
Correct Answer
B
Rationales
Correct (B): lncRNAs commonly regulate chromatin state and
gene transcription; dysregulation can change expression of
tumor suppressors or oncogenes, contributing to cancer.
Incorrect (A): lncRNAs do not code for proteins; they function
, as regulators rather than direct protein coding sequences.
Incorrect (C): lncRNAs influence gene regulation, not direct
mitochondrial ATP synthesis.
Incorrect (D): Collagen is an ECM protein; lncRNAs are not
structural ECM components.
Teaching Point
Noncoding RNAs regulate gene expression epigenetically;
dysregulation can drive disease.
Citation (simplified APA)
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
studylib.net
3
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A clinician orders mitochondrial DNA (mtDNA) testing for a
patient with progressive external ophthalmoplegia. Which
inheritance pattern and property of mtDNA best explains the
variable severity among family members?
Options
A. Autosomal dominant inheritance with imprinting
B. Maternal inheritance with heteroplasmy leading to variable
mutant mtDNA proportions
10th Edition
Author(s)Vinay Kumar; Abul K. Abbas;
Jon C. Aster
TEST BANK
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A 2-year-old boy has recurrent infections and failure to thrive.
Genetic testing shows a loss-of-function mutation in a gene
required for DNA repair. Which cellular consequence best
explains increased cancer risk in this patient?
Options
A. Increased mitochondrial ROS production leading to apoptosis
,B. Accumulation of mutations from defective DNA repair
leading to genomic instability
C. Loss of extracellular matrix proteins causing tissue barrier
failure
D. Persistent activation of growth factor receptors causing
hypertrophy
Correct Answer
B
Rationales
Correct (B): Defective DNA repair allows mutations to
accumulate over time, producing genomic instability and
increasing malignant transformation risk. Robbins emphasizes
that accurate maintenance of the genome prevents mutation
accumulation and cancer.
Incorrect (A): Mitochondrial ROS and apoptosis are linked to
cell injury, but do not directly explain genomic mutation
accumulation from repair defects.
Incorrect (C): ECM defects affect tissue architecture and wound
healing but are not the primary mechanism linking DNA repair
defects to cancer.
Incorrect (D): Growth factor receptor activation can promote
proliferation, but the hallmark in DNA repair syndromes is
mutation accumulation, not receptor hyperactivity.
Teaching Point
DNA repair defects → mutation accumulation → genomic
instability → cancer risk.
,Citation (simplified APA)
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
studylib.net
2
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A researcher studies long noncoding RNAs (lncRNAs) and finds
altered expression in a tumor. Which functional effect of lncRNA
dysregulation is most consistent with tumor development?
Options
A. Direct coding for oncoproteins
B. Epigenetic regulation of gene expression leading to altered
transcriptional programs
C. Increasing mitochondrial ATP production
D. Serving as a structural component of collagen fibers
Correct Answer
B
Rationales
Correct (B): lncRNAs commonly regulate chromatin state and
gene transcription; dysregulation can change expression of
tumor suppressors or oncogenes, contributing to cancer.
Incorrect (A): lncRNAs do not code for proteins; they function
, as regulators rather than direct protein coding sequences.
Incorrect (C): lncRNAs influence gene regulation, not direct
mitochondrial ATP synthesis.
Incorrect (D): Collagen is an ECM protein; lncRNAs are not
structural ECM components.
Teaching Point
Noncoding RNAs regulate gene expression epigenetically;
dysregulation can drive disease.
Citation (simplified APA)
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
studylib.net
3
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A clinician orders mitochondrial DNA (mtDNA) testing for a
patient with progressive external ophthalmoplegia. Which
inheritance pattern and property of mtDNA best explains the
variable severity among family members?
Options
A. Autosomal dominant inheritance with imprinting
B. Maternal inheritance with heteroplasmy leading to variable
mutant mtDNA proportions
