ROBBINS BASIC PATHOLOGY
10TH EDITION
AUTHOR(S)VINAY KUMAR; ABUL K.
ABBAS; JON C. ASTER
TEST BANK
1
Reference — Ch. 1 — The Genome
Question Stem
A 28-year-old woman with a family history of hereditary breast
cancer undergoes genetic counseling. A variant is found that
changes a single amino acid but does not alter splicing or
promoter regions. Which mechanism best explains how this
variant could still produce disease?
A. Altered microRNA binding in the 3′ untranslated region
B. A missense change that disrupts protein folding and stability
C. Creation of a new promoter increasing transcription levels
D. Disruption of centromere function during mitosis
Correct Answer: B
,Rationales
Correct — B: A missense substitution can change an amino acid
essential for proper folding or stability, leading to loss of
function or degradation of the protein, causing disease.
A: MicroRNA effects arise from 3′ UTR variants, not from coding
missense changes.
C: Promoter creation would require upstream regulatory
sequence changes, not a coding missense variant.
D: Centromere function is determined by chromosomal
structural sequences; a single-codon change in a gene would
not disrupt centromeres.
Teaching Point
Missense mutations may cause disease by destabilizing protein
folding and function.
Citation
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
2
Reference — Ch. 1 — The Genome
Question Stem
A researcher studies DNA repair in cultured cells exposed to UV
light. Cells with defective nucleotide excision repair (NER) show
markedly increased mutagenesis. Which clinical syndrome best
illustrates defective NER and the resulting cancer risk?
,A. Lynch syndrome (hereditary nonpolyposis colorectal cancer)
B. Xeroderma pigmentosum
C. Fanconi anemia
D. Bloom syndrome
Correct Answer: B
Rationales
Correct — B: Xeroderma pigmentosum is caused by defective
NER leading to inability to remove UV-induced pyrimidine
dimers and markedly increased skin cancer risk.
A: Lynch syndrome involves mismatch repair defects and
predisposes to colorectal and other cancers, not UV sensitivity.
C: Fanconi anemia involves interstrand crosslink repair defects
with bone marrow failure and cancer risk, not classic UV dimer
repair.
D: Bloom syndrome features genomic instability due to helicase
defects and increased malignancy risk, but it's not the canonical
NER defect causing extreme UV sensitivity.
Teaching Point
NER repairs UV-induced pyrimidine dimers; its failure causes
xeroderma pigmentosum and skin cancer risk.
Citation
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
3
Reference — Ch. 1 — Cellular Housekeeping
, Question Stem
A hospitalized patient with prolonged fasting shows increased
autophagy in hepatocytes. Which cellular process best explains
how autophagy supports survival during nutrient deprivation?
A. Fusion of autophagosomes with lysosomes to degrade
intracellular components for recycling
B. Ubiquitination of misfolded proteins for proteasomal
degradation only
C. Increased mitochondrial biogenesis to produce more ATP
D. Exocytosis of damaged organelles into the bloodstream
Correct Answer: A
Rationales
Correct — A: Autophagy sequesters cytoplasmic material into
autophagosomes that fuse with lysosomes, allowing
degradation and recycling of macromolecules to sustain
metabolism.
B: Ubiquitin-proteasome primarily degrades short-lived and
misfolded proteins, not bulk organelle recycling during
starvation.
C: Mitochondrial biogenesis is not the immediate adaptive
response to acute nutrient deprivation; autophagy provides
substrates.
D: Cells do not exocytose damaged organelles as a primary
housekeeping mechanism; intracellular degradation is used.
10TH EDITION
AUTHOR(S)VINAY KUMAR; ABUL K.
ABBAS; JON C. ASTER
TEST BANK
1
Reference — Ch. 1 — The Genome
Question Stem
A 28-year-old woman with a family history of hereditary breast
cancer undergoes genetic counseling. A variant is found that
changes a single amino acid but does not alter splicing or
promoter regions. Which mechanism best explains how this
variant could still produce disease?
A. Altered microRNA binding in the 3′ untranslated region
B. A missense change that disrupts protein folding and stability
C. Creation of a new promoter increasing transcription levels
D. Disruption of centromere function during mitosis
Correct Answer: B
,Rationales
Correct — B: A missense substitution can change an amino acid
essential for proper folding or stability, leading to loss of
function or degradation of the protein, causing disease.
A: MicroRNA effects arise from 3′ UTR variants, not from coding
missense changes.
C: Promoter creation would require upstream regulatory
sequence changes, not a coding missense variant.
D: Centromere function is determined by chromosomal
structural sequences; a single-codon change in a gene would
not disrupt centromeres.
Teaching Point
Missense mutations may cause disease by destabilizing protein
folding and function.
Citation
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
2
Reference — Ch. 1 — The Genome
Question Stem
A researcher studies DNA repair in cultured cells exposed to UV
light. Cells with defective nucleotide excision repair (NER) show
markedly increased mutagenesis. Which clinical syndrome best
illustrates defective NER and the resulting cancer risk?
,A. Lynch syndrome (hereditary nonpolyposis colorectal cancer)
B. Xeroderma pigmentosum
C. Fanconi anemia
D. Bloom syndrome
Correct Answer: B
Rationales
Correct — B: Xeroderma pigmentosum is caused by defective
NER leading to inability to remove UV-induced pyrimidine
dimers and markedly increased skin cancer risk.
A: Lynch syndrome involves mismatch repair defects and
predisposes to colorectal and other cancers, not UV sensitivity.
C: Fanconi anemia involves interstrand crosslink repair defects
with bone marrow failure and cancer risk, not classic UV dimer
repair.
D: Bloom syndrome features genomic instability due to helicase
defects and increased malignancy risk, but it's not the canonical
NER defect causing extreme UV sensitivity.
Teaching Point
NER repairs UV-induced pyrimidine dimers; its failure causes
xeroderma pigmentosum and skin cancer risk.
Citation
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
3
Reference — Ch. 1 — Cellular Housekeeping
, Question Stem
A hospitalized patient with prolonged fasting shows increased
autophagy in hepatocytes. Which cellular process best explains
how autophagy supports survival during nutrient deprivation?
A. Fusion of autophagosomes with lysosomes to degrade
intracellular components for recycling
B. Ubiquitination of misfolded proteins for proteasomal
degradation only
C. Increased mitochondrial biogenesis to produce more ATP
D. Exocytosis of damaged organelles into the bloodstream
Correct Answer: A
Rationales
Correct — A: Autophagy sequesters cytoplasmic material into
autophagosomes that fuse with lysosomes, allowing
degradation and recycling of macromolecules to sustain
metabolism.
B: Ubiquitin-proteasome primarily degrades short-lived and
misfolded proteins, not bulk organelle recycling during
starvation.
C: Mitochondrial biogenesis is not the immediate adaptive
response to acute nutrient deprivation; autophagy provides
substrates.
D: Cells do not exocytose damaged organelles as a primary
housekeeping mechanism; intracellular degradation is used.
