NSG 5140 | Midterm Exam: Advanced
Pathophysiology South College | 2026
Latest Update Practice Questions with
Correct Answers & Detailed Rationales
Section 1: Cellular Biology & Genetics (Questions
1-25)
Question 1
A client is diagnosed with a genetic disorder characterized by an
abnormal number of chromosomes. The nurse understands that this
type of disorder is classified as:
A) Mendelian disorder
B) Multifactorial disorder
C) Chromosomal disorder
D) Mitochondrial disorder
Answer: C) Chromosomal disorder
Rationale: Chromosomal disorders result from an abnormal number or
structure of chromosomes. Examples include Down syndrome
(trisomy 21), Turner syndrome (monosomy X), and Klinefelter
syndrome (XXY). Mendelian disorders result from mutations in single
genes and follow predictable inheritance patterns. Multifactorial
disorders result from interactions between multiple genes and
environmental factors.
,Question 2
A client with an autosomal dominant disorder has a 50% chance of
passing the affected gene to each offspring. This pattern of
inheritance is characteristic of which condition?
A) Huntington's disease
B) Cystic fibrosis
C) Sickle cell anemia
D) Tay-Sachs disease
Answer: A) Huntington's disease
Rationale: Huntington's disease follows an autosomal dominant
inheritance pattern, meaning that each child of an affected parent has
a 50% chance of inheriting the disease-causing gene. Cystic fibrosis,
sickle cell anemia, and Tay-Sachs disease follow autosomal recessive
inheritance patterns, requiring two copies of the mutated gene for
disease expression.
Question 3
A 45-year-old patient is diagnosed with Li-Fraumeni syndrome. The
nurse understands that this condition is associated with which tumor
suppressor gene mutation?
A) BRCA1
B) p53
C) APC
D) RB1
Answer: B) p53
,Rationale: Li-Fraumeni syndrome is caused by a mutation in the p53
tumor suppressor gene, often referred to as the "guardian of the
genome." This mutation predisposes individuals to multiple cancers,
including sarcomas, breast cancer, and brain tumors. BRCA1
mutations are associated with breast and ovarian cancer. APC
mutations cause familial adenomatous polyposis. RB1 mutations
cause retinoblastoma.
Question 4
Apoptosis is best described as:
A) Uncontrolled cell division
B) Programmed cell death
C) Cellular swelling
D) Cellular adaptation
Answer: B) Programmed cell death
Rationale: Apoptosis is a highly regulated process of programmed cell
death that plays a crucial role in normal tissue development, removal
of damaged cells, and immune system function. Unlike necrosis
(uncontrolled cell death due to injury), apoptosis is a controlled
process that does not trigger an inflammatory response.
Question 5
A client is diagnosed with a mutation in the BRCA1 gene. The nurse
recognizes that this client is at increased risk for which cancers?
A) Breast and ovarian cancer
B) Lung and colon cancer
C) Skin and brain cancer
D) Pancreatic and liver cancer
, Answer: A) Breast and ovarian cancer
Rationale: BRCA1 and BRCA2 gene mutations are associated with
increased risk for breast and ovarian cancer. These genes are tumor
suppressor genes involved in DNA repair. Women with BRCA1
mutations have up to an 80% lifetime risk of breast cancer and up to a
40% risk of ovarian cancer.
Question 6
The nurse recalls that oncogenes contribute to cancer development
by:
A) Suppressing tumor growth
B) Promoting apoptosis
C) Promoting uncontrolled cell division
D) Repairing damaged DNA
Answer: C) Promoting uncontrolled cell division
Rationale: Oncogenes are mutated forms of normal genes
(proto-oncogenes) that promote uncontrolled cell division and tumor
growth. They function as dominant genes, meaning that mutation of
one allele is sufficient to contribute to cancer development. Tumor
suppressor genes normally inhibit cell growth and require mutation of
both alleles to lose their protective function.
Question 7
During a cellular injury, the sodium-potassium pump fails, leading to
cellular swelling. This process is known as:
A) Ischemic injury
B) Hypoxic injury
Pathophysiology South College | 2026
Latest Update Practice Questions with
Correct Answers & Detailed Rationales
Section 1: Cellular Biology & Genetics (Questions
1-25)
Question 1
A client is diagnosed with a genetic disorder characterized by an
abnormal number of chromosomes. The nurse understands that this
type of disorder is classified as:
A) Mendelian disorder
B) Multifactorial disorder
C) Chromosomal disorder
D) Mitochondrial disorder
Answer: C) Chromosomal disorder
Rationale: Chromosomal disorders result from an abnormal number or
structure of chromosomes. Examples include Down syndrome
(trisomy 21), Turner syndrome (monosomy X), and Klinefelter
syndrome (XXY). Mendelian disorders result from mutations in single
genes and follow predictable inheritance patterns. Multifactorial
disorders result from interactions between multiple genes and
environmental factors.
,Question 2
A client with an autosomal dominant disorder has a 50% chance of
passing the affected gene to each offspring. This pattern of
inheritance is characteristic of which condition?
A) Huntington's disease
B) Cystic fibrosis
C) Sickle cell anemia
D) Tay-Sachs disease
Answer: A) Huntington's disease
Rationale: Huntington's disease follows an autosomal dominant
inheritance pattern, meaning that each child of an affected parent has
a 50% chance of inheriting the disease-causing gene. Cystic fibrosis,
sickle cell anemia, and Tay-Sachs disease follow autosomal recessive
inheritance patterns, requiring two copies of the mutated gene for
disease expression.
Question 3
A 45-year-old patient is diagnosed with Li-Fraumeni syndrome. The
nurse understands that this condition is associated with which tumor
suppressor gene mutation?
A) BRCA1
B) p53
C) APC
D) RB1
Answer: B) p53
,Rationale: Li-Fraumeni syndrome is caused by a mutation in the p53
tumor suppressor gene, often referred to as the "guardian of the
genome." This mutation predisposes individuals to multiple cancers,
including sarcomas, breast cancer, and brain tumors. BRCA1
mutations are associated with breast and ovarian cancer. APC
mutations cause familial adenomatous polyposis. RB1 mutations
cause retinoblastoma.
Question 4
Apoptosis is best described as:
A) Uncontrolled cell division
B) Programmed cell death
C) Cellular swelling
D) Cellular adaptation
Answer: B) Programmed cell death
Rationale: Apoptosis is a highly regulated process of programmed cell
death that plays a crucial role in normal tissue development, removal
of damaged cells, and immune system function. Unlike necrosis
(uncontrolled cell death due to injury), apoptosis is a controlled
process that does not trigger an inflammatory response.
Question 5
A client is diagnosed with a mutation in the BRCA1 gene. The nurse
recognizes that this client is at increased risk for which cancers?
A) Breast and ovarian cancer
B) Lung and colon cancer
C) Skin and brain cancer
D) Pancreatic and liver cancer
, Answer: A) Breast and ovarian cancer
Rationale: BRCA1 and BRCA2 gene mutations are associated with
increased risk for breast and ovarian cancer. These genes are tumor
suppressor genes involved in DNA repair. Women with BRCA1
mutations have up to an 80% lifetime risk of breast cancer and up to a
40% risk of ovarian cancer.
Question 6
The nurse recalls that oncogenes contribute to cancer development
by:
A) Suppressing tumor growth
B) Promoting apoptosis
C) Promoting uncontrolled cell division
D) Repairing damaged DNA
Answer: C) Promoting uncontrolled cell division
Rationale: Oncogenes are mutated forms of normal genes
(proto-oncogenes) that promote uncontrolled cell division and tumor
growth. They function as dominant genes, meaning that mutation of
one allele is sufficient to contribute to cancer development. Tumor
suppressor genes normally inhibit cell growth and require mutation of
both alleles to lose their protective function.
Question 7
During a cellular injury, the sodium-potassium pump fails, leading to
cellular swelling. This process is known as:
A) Ischemic injury
B) Hypoxic injury
