NSG 5140 | Final Exam: Advanced
Pathophysiology- Questions with
CORRECT Answers | Latest update
2026/2027 -South College
1. A patient is diagnosed with a germline mutation in the BRCA1 gene. This
mutation increases the risk for:
A. Lung and colon cancer
B. Breast and ovarian cancer
C. Pancreatic and gastric cancer
D. Prostate and testicular cancer
Correct Answer: B. Breast and ovarian cancer
Rationale: BRCA1 and BRCA2 are tumor suppressor genes involved in DNA repair.
Germline mutations in these genes are associated with a significantly increased risk of
hereditary breast and ovarian cancer syndrome.
2. The process by which a normal cell is converted into a malignant cell requires
multiple genetic mutations. This concept is known as:
A. Clonal expansion
B. Multistep carcinogenesis
C. Apoptosis
D. Angiogenesis
Correct Answer: B. Multistep carcinogenesis
Rationale: Carcinogenesis is a multistep process involving the accumulation of multiple
genetic and epigenetic alterations over time, leading to the progressive transformation
of a normal cell to a malignant one.
3. A patient's tumor is found to have a mutation in the TP53 gene. This gene
normally functions as a:
A. Proto-oncogene
B. Tumor suppressor gene
C. Oncogene
,D. DNA repair gene
Correct Answer: B. Tumor suppressor gene
Rationale: TP53 (p53) is a crucial tumor suppressor gene. It is known as the "guardian of
the genome" and is responsible for halting the cell cycle to allow for DNA repair or
triggering apoptosis if the damage is irreparable. Its mutation is the most common
genetic alteration in human cancers.
4. The "two-hit" hypothesis explains the development of cancer in hereditary
syndromes. This theory states that:
A. Two oncogenes must be activated.
B. Two viruses must infect a cell to cause cancer.
C. Both copies of a tumor suppressor gene must be inactivated.
D. Two separate mutations are needed in the same cell cycle.
Correct Answer: C. Both copies of a tumor suppressor gene must be inactivated.
Rationale: The Knudson two-hit hypothesis proposes that for a tumor suppressor gene
to be inactivated and contribute to cancer, both alleles must be mutated or lost. In
hereditary cancers, the first hit is inherited (germline), and the second hit is acquired
(somatic).
5. A patient's cancer cells demonstrate a high level of telomerase activity. This
allows the cancer cells to:
A. Repair DNA damage more efficiently.
B. Divide indefinitely by preventing telomere shortening.
C. Metastasize to distant sites.
D. Evade the immune system.
Correct Answer: B. Divide indefinitely by preventing telomere shortening.
Rationale: Telomeres are protective caps at the ends of chromosomes that shorten with
each cell division. Telomerase is an enzyme that rebuilds telomeres. Cancer cells
reactivate telomerase, enabling them to bypass cellular senescence and achieve
immortality.
6. A patient with a family history of Lynch syndrome (HNPCC) is at increased risk
for:
A. Breast cancer
B. Lung cancer
C. Colorectal and endometrial cancer
,D. Prostate cancer
Correct Answer: C. Colorectal and endometrial cancer
Rationale: Lynch syndrome (hereditary nonpolyposis colorectal cancer) is caused by
germline mutations in mismatch repair (MMR) genes. This leads to a high risk of
colorectal cancer, endometrial cancer, and other malignancies.
7. Which of the following is a characteristic of cancer cells that distinguishes them
from normal cells?
A. Contact inhibition
B. Anchorage dependence
C. Loss of contact inhibition and anchorage independence
D. High degree of differentiation
Correct Answer: C. Loss of contact inhibition and anchorage independence
Rationale: Normal cells stop growing when they come into contact with neighboring
cells (contact inhibition) and require attachment to a surface (anchorage dependence).
Cancer cells have lost these regulatory mechanisms, allowing them to grow in a
disorganized manner and even in suspension.
8. The term "aneuploidy" refers to:
A. A normal number of chromosomes
B. An abnormal number of chromosomes
C. A single gene mutation
D. A chromosomal translocation
Correct Answer: B. An abnormal number of chromosomes
Rationale: Aneuploidy is a condition in which a cell has an abnormal number of
chromosomes, either missing (monosomy) or having extra copies (trisomy, tetrasomy). It
is a hallmark of cancer cells.
9. A patient with chronic myeloid leukemia (CML) has the Philadelphia
chromosome. This is an example of a:
A. Point mutation
B. Chromosomal translocation
C. Gene amplification
D. Epigenetic silencing
Correct Answer: B. Chromosomal translocation
Rationale: The Philadelphia chromosome is a balanced reciprocal translocation between
, chromosomes 9 and 22, t(9;22). This creates the BCR-ABL fusion gene, a constitutively
active tyrosine kinase that drives the uncontrolled proliferation of myeloid cells.
10. The process by which cancer cells spread from the primary site to distant
organs is called:
A. Angiogenesis
B. Invasion
C. Metastasis
D. Proliferation
Correct Answer: C. Metastasis
Rationale: Metastasis is the multistep process by which cancer cells break away from
the primary tumor, travel through the blood or lymphatic system, and establish
secondary tumors in distant sites. Invasion refers to local spread into surrounding
tissues.
11. The Warburg effect describes the tendency of cancer cells to:
A. Use oxidative phosphorylation for energy.
B. Rely heavily on aerobic glycolysis for energy production, even in the presence of
oxygen.
C. Metabolize lipids for energy.
D. Produce energy through ketogenesis.
Correct Answer: B. Rely heavily on aerobic glycolysis for energy production, even
in the presence of oxygen.
Rationale: The Warburg effect is a metabolic hallmark of cancer. Cancer cells
preferentially use aerobic glycolysis (producing lactate from glucose) over oxidative
phosphorylation, even when oxygen is plentiful. This supports rapid proliferation by
providing biosynthetic precursors.
12. A patient's tumor is found to have a high degree of microsatellite instability
(MSI). This is most often associated with:
A. Defects in DNA mismatch repair
B. Overexpression of HER2/neu
C. A KRAS mutation
D. A BRAF mutation
Correct Answer: A. Defects in DNA mismatch repair
Rationale: Microsatellite instability (MSI) results from defects in the DNA mismatch
Pathophysiology- Questions with
CORRECT Answers | Latest update
2026/2027 -South College
1. A patient is diagnosed with a germline mutation in the BRCA1 gene. This
mutation increases the risk for:
A. Lung and colon cancer
B. Breast and ovarian cancer
C. Pancreatic and gastric cancer
D. Prostate and testicular cancer
Correct Answer: B. Breast and ovarian cancer
Rationale: BRCA1 and BRCA2 are tumor suppressor genes involved in DNA repair.
Germline mutations in these genes are associated with a significantly increased risk of
hereditary breast and ovarian cancer syndrome.
2. The process by which a normal cell is converted into a malignant cell requires
multiple genetic mutations. This concept is known as:
A. Clonal expansion
B. Multistep carcinogenesis
C. Apoptosis
D. Angiogenesis
Correct Answer: B. Multistep carcinogenesis
Rationale: Carcinogenesis is a multistep process involving the accumulation of multiple
genetic and epigenetic alterations over time, leading to the progressive transformation
of a normal cell to a malignant one.
3. A patient's tumor is found to have a mutation in the TP53 gene. This gene
normally functions as a:
A. Proto-oncogene
B. Tumor suppressor gene
C. Oncogene
,D. DNA repair gene
Correct Answer: B. Tumor suppressor gene
Rationale: TP53 (p53) is a crucial tumor suppressor gene. It is known as the "guardian of
the genome" and is responsible for halting the cell cycle to allow for DNA repair or
triggering apoptosis if the damage is irreparable. Its mutation is the most common
genetic alteration in human cancers.
4. The "two-hit" hypothesis explains the development of cancer in hereditary
syndromes. This theory states that:
A. Two oncogenes must be activated.
B. Two viruses must infect a cell to cause cancer.
C. Both copies of a tumor suppressor gene must be inactivated.
D. Two separate mutations are needed in the same cell cycle.
Correct Answer: C. Both copies of a tumor suppressor gene must be inactivated.
Rationale: The Knudson two-hit hypothesis proposes that for a tumor suppressor gene
to be inactivated and contribute to cancer, both alleles must be mutated or lost. In
hereditary cancers, the first hit is inherited (germline), and the second hit is acquired
(somatic).
5. A patient's cancer cells demonstrate a high level of telomerase activity. This
allows the cancer cells to:
A. Repair DNA damage more efficiently.
B. Divide indefinitely by preventing telomere shortening.
C. Metastasize to distant sites.
D. Evade the immune system.
Correct Answer: B. Divide indefinitely by preventing telomere shortening.
Rationale: Telomeres are protective caps at the ends of chromosomes that shorten with
each cell division. Telomerase is an enzyme that rebuilds telomeres. Cancer cells
reactivate telomerase, enabling them to bypass cellular senescence and achieve
immortality.
6. A patient with a family history of Lynch syndrome (HNPCC) is at increased risk
for:
A. Breast cancer
B. Lung cancer
C. Colorectal and endometrial cancer
,D. Prostate cancer
Correct Answer: C. Colorectal and endometrial cancer
Rationale: Lynch syndrome (hereditary nonpolyposis colorectal cancer) is caused by
germline mutations in mismatch repair (MMR) genes. This leads to a high risk of
colorectal cancer, endometrial cancer, and other malignancies.
7. Which of the following is a characteristic of cancer cells that distinguishes them
from normal cells?
A. Contact inhibition
B. Anchorage dependence
C. Loss of contact inhibition and anchorage independence
D. High degree of differentiation
Correct Answer: C. Loss of contact inhibition and anchorage independence
Rationale: Normal cells stop growing when they come into contact with neighboring
cells (contact inhibition) and require attachment to a surface (anchorage dependence).
Cancer cells have lost these regulatory mechanisms, allowing them to grow in a
disorganized manner and even in suspension.
8. The term "aneuploidy" refers to:
A. A normal number of chromosomes
B. An abnormal number of chromosomes
C. A single gene mutation
D. A chromosomal translocation
Correct Answer: B. An abnormal number of chromosomes
Rationale: Aneuploidy is a condition in which a cell has an abnormal number of
chromosomes, either missing (monosomy) or having extra copies (trisomy, tetrasomy). It
is a hallmark of cancer cells.
9. A patient with chronic myeloid leukemia (CML) has the Philadelphia
chromosome. This is an example of a:
A. Point mutation
B. Chromosomal translocation
C. Gene amplification
D. Epigenetic silencing
Correct Answer: B. Chromosomal translocation
Rationale: The Philadelphia chromosome is a balanced reciprocal translocation between
, chromosomes 9 and 22, t(9;22). This creates the BCR-ABL fusion gene, a constitutively
active tyrosine kinase that drives the uncontrolled proliferation of myeloid cells.
10. The process by which cancer cells spread from the primary site to distant
organs is called:
A. Angiogenesis
B. Invasion
C. Metastasis
D. Proliferation
Correct Answer: C. Metastasis
Rationale: Metastasis is the multistep process by which cancer cells break away from
the primary tumor, travel through the blood or lymphatic system, and establish
secondary tumors in distant sites. Invasion refers to local spread into surrounding
tissues.
11. The Warburg effect describes the tendency of cancer cells to:
A. Use oxidative phosphorylation for energy.
B. Rely heavily on aerobic glycolysis for energy production, even in the presence of
oxygen.
C. Metabolize lipids for energy.
D. Produce energy through ketogenesis.
Correct Answer: B. Rely heavily on aerobic glycolysis for energy production, even
in the presence of oxygen.
Rationale: The Warburg effect is a metabolic hallmark of cancer. Cancer cells
preferentially use aerobic glycolysis (producing lactate from glucose) over oxidative
phosphorylation, even when oxygen is plentiful. This supports rapid proliferation by
providing biosynthetic precursors.
12. A patient's tumor is found to have a high degree of microsatellite instability
(MSI). This is most often associated with:
A. Defects in DNA mismatch repair
B. Overexpression of HER2/neu
C. A KRAS mutation
D. A BRAF mutation
Correct Answer: A. Defects in DNA mismatch repair
Rationale: Microsatellite instability (MSI) results from defects in the DNA mismatch
