Page 1 of 114
MMSC491 Exam 1, Exam 2, Exam 3 EXAM QUESTIONS AND
CORRECT VERIFIED SOLUTIONS LATEST UPDATE THIS YEAR –
JUST RELEASED
MMSC491 Exam 1, Exam 2, Exam 3
10-Line Exam Coverage in Points Form
1. Course Identity – MMSC491 is "Human Molecular Genetics" at the University of
Delaware, part of the Medical Laboratory Science curriculum; prerequisite is MMSC390
or MMSC490 with a C- or better .
2. Cancer Genetics Core – Exam 3 heavily focuses on cancer hallmarks: oncogenes
(dominant-acting), tumor suppressors (recessive), driver/passenger mutations, genome
instability, and telomerase in cancer cells .
3. Epigenetics & Imprinting – DNA methylation (hypomethylation linked to cancer), histone
modifications, X-inactivation, Barr bodies, and imprinting disorders (Angelman/Prader-
Willi at 15q11-q13) .
4. Genetic Variation Sources – Endogenous replication/repair errors cause most mutations;
exogenous mutagens are a minor source; types include SNPs, indels, CNVs, and
chromosomal rearrangements .
5. Genomic Alteration Mechanisms – Chromothripsis (single catastrophic chromosome
shattering), gene amplification (e.g., MYCN, HER2), balanced translocations (e.g.,
Philadelphia chromosome/BCR-ABL), and chromoplexy .
6. Molecular Diagnostic Techniques – QF-PCR (trisomy detection by peak area ratios),
ARMS-PCR (SNP discrimination), FISH (gene amplification/copy number), DNA/RNA
hybridization methods .
7. Therapeutic Approaches – Gene therapy (killing disease cells), augmentation therapy,
pharmacogenetics, somatic vs. germline, in vivo/ex vivo; clinical trial phases (Phase II
tests safety/efficacy in hundreds) .
8. Inheritance Patterns – Autosomal recessive (25% risk, carriers asymptomatic), X-linked
recessive (affected males, carrier females), mitochondrial inheritance, codominance
(ABO blood group), imprinting .
9. Regulatory RNAs – miRNAs role in apoptosis and cell cycle; siRNA and RNAi mechanisms
for gene silencing; long noncoding RNAs (e.g., H19 in gastric cancer); alternative
splicing .
10. Genetic Testing Ethics – Carrier screening (identify heterozygotes), incidental findings
(unrelated discoveries), analytical validity (sensitivity/specificity), clinical utility;
databases: TCGA, ICGC .
, Page 2 of 114
250 MCQs with Rationales
1. In applying the concept of chromothripsis to cancer genomics, which description best
characterizes this phenomenon in tumor cells?
A) Gradual accumulation of point mutations over decades
B) A single catastrophic event that shatters multiple chromosomes in a localized region with
subsequent random rejoining
C) Progressive shortening of telomeres leading to chromosomal fusion
D) Stepwise epigenetic silencing of tumor suppressor genes
Answer: B
Rationale: Chromothripsis is defined as a catastrophic event leading to the shattering of
multiple chromosomes in a chromosome region and the subsequent rearrangement or loss of
chromosome fragments, generating large numbers of chromosomal rearrangements in what
appears to be a single event .
2. A researcher is analyzing a tumor sample and observes dozens of simultaneous
chromosomal rearrangements confined to a single chromosome arm. This pattern is most
consistent with:
A) Gene amplification
B) Chromothripsis
C) Balanced translocation
D) Microsatellite instability
, Page 3 of 114
Answer: B
Rationale: Chromothripsis involves massive chromosomal shattering and rearrangement in a
single catastrophic event, often localized to one chromosome or chromosome arm. This differs
from gradual accumulation of rearrangements seen in other cancer types .
3. Which of the following databases contains comprehensive descriptions of genomic,
transcriptomic, and epigenetic changes in different types of tumors?
A) GenBank
B) TCGA (The Cancer Genome Atlas)
C) PubMed
D) OMIM
Answer: B
Rationale: TCGA is a landmark cancer genomics program that has molecularly characterized
over 20,000 primary cancer samples across 33 cancer types, providing integrated genomic,
transcriptomic, and epigenetic data .
4. A patient is diagnosed with chronic myeloid leukemia (CML). Cytogenetic analysis reveals
the Philadelphia chromosome. This genetic alteration is best described as:
A) A germline mutation in the ABL1 gene
B) A balanced reciprocal translocation between chromosome 9 and chromosome 22
C) A deletion on chromosome 22q11
D) A gene amplification on chromosome 9
, Page 4 of 114
Answer: B
Rationale: The Philadelphia chromosome results from a balanced reciprocal translocation of the
ABL1 oncogene on chromosome 9 to the end of the BCR gene on chromosome 22, creating the
BCR-ABL fusion gene. This occurs in approximately 90% of CML cases .
5. Which of the following is NOT a characteristic of cancer cells?
A) Increased genome stability
B) Uncontrolled cell growth
C) Ability to spread through blood and lymph nodes
D) Loss of contact inhibition
Answer: A
Rationale: Cancer cells are characterized by genome instability, not increased stability. They
exhibit uncontrolled growth, metastatic potential, and loss of normal regulatory mechanisms
like contact inhibition .
6. A tumor is discovered as a small mass of cells that has not invaded neighboring tissues.
Several months after removal, the patient shows no recurrence. This tumor is best classified
as:
A) Malignant
B) Benign
C) Metastatic
D) Anaplastic
MMSC491 Exam 1, Exam 2, Exam 3 EXAM QUESTIONS AND
CORRECT VERIFIED SOLUTIONS LATEST UPDATE THIS YEAR –
JUST RELEASED
MMSC491 Exam 1, Exam 2, Exam 3
10-Line Exam Coverage in Points Form
1. Course Identity – MMSC491 is "Human Molecular Genetics" at the University of
Delaware, part of the Medical Laboratory Science curriculum; prerequisite is MMSC390
or MMSC490 with a C- or better .
2. Cancer Genetics Core – Exam 3 heavily focuses on cancer hallmarks: oncogenes
(dominant-acting), tumor suppressors (recessive), driver/passenger mutations, genome
instability, and telomerase in cancer cells .
3. Epigenetics & Imprinting – DNA methylation (hypomethylation linked to cancer), histone
modifications, X-inactivation, Barr bodies, and imprinting disorders (Angelman/Prader-
Willi at 15q11-q13) .
4. Genetic Variation Sources – Endogenous replication/repair errors cause most mutations;
exogenous mutagens are a minor source; types include SNPs, indels, CNVs, and
chromosomal rearrangements .
5. Genomic Alteration Mechanisms – Chromothripsis (single catastrophic chromosome
shattering), gene amplification (e.g., MYCN, HER2), balanced translocations (e.g.,
Philadelphia chromosome/BCR-ABL), and chromoplexy .
6. Molecular Diagnostic Techniques – QF-PCR (trisomy detection by peak area ratios),
ARMS-PCR (SNP discrimination), FISH (gene amplification/copy number), DNA/RNA
hybridization methods .
7. Therapeutic Approaches – Gene therapy (killing disease cells), augmentation therapy,
pharmacogenetics, somatic vs. germline, in vivo/ex vivo; clinical trial phases (Phase II
tests safety/efficacy in hundreds) .
8. Inheritance Patterns – Autosomal recessive (25% risk, carriers asymptomatic), X-linked
recessive (affected males, carrier females), mitochondrial inheritance, codominance
(ABO blood group), imprinting .
9. Regulatory RNAs – miRNAs role in apoptosis and cell cycle; siRNA and RNAi mechanisms
for gene silencing; long noncoding RNAs (e.g., H19 in gastric cancer); alternative
splicing .
10. Genetic Testing Ethics – Carrier screening (identify heterozygotes), incidental findings
(unrelated discoveries), analytical validity (sensitivity/specificity), clinical utility;
databases: TCGA, ICGC .
, Page 2 of 114
250 MCQs with Rationales
1. In applying the concept of chromothripsis to cancer genomics, which description best
characterizes this phenomenon in tumor cells?
A) Gradual accumulation of point mutations over decades
B) A single catastrophic event that shatters multiple chromosomes in a localized region with
subsequent random rejoining
C) Progressive shortening of telomeres leading to chromosomal fusion
D) Stepwise epigenetic silencing of tumor suppressor genes
Answer: B
Rationale: Chromothripsis is defined as a catastrophic event leading to the shattering of
multiple chromosomes in a chromosome region and the subsequent rearrangement or loss of
chromosome fragments, generating large numbers of chromosomal rearrangements in what
appears to be a single event .
2. A researcher is analyzing a tumor sample and observes dozens of simultaneous
chromosomal rearrangements confined to a single chromosome arm. This pattern is most
consistent with:
A) Gene amplification
B) Chromothripsis
C) Balanced translocation
D) Microsatellite instability
, Page 3 of 114
Answer: B
Rationale: Chromothripsis involves massive chromosomal shattering and rearrangement in a
single catastrophic event, often localized to one chromosome or chromosome arm. This differs
from gradual accumulation of rearrangements seen in other cancer types .
3. Which of the following databases contains comprehensive descriptions of genomic,
transcriptomic, and epigenetic changes in different types of tumors?
A) GenBank
B) TCGA (The Cancer Genome Atlas)
C) PubMed
D) OMIM
Answer: B
Rationale: TCGA is a landmark cancer genomics program that has molecularly characterized
over 20,000 primary cancer samples across 33 cancer types, providing integrated genomic,
transcriptomic, and epigenetic data .
4. A patient is diagnosed with chronic myeloid leukemia (CML). Cytogenetic analysis reveals
the Philadelphia chromosome. This genetic alteration is best described as:
A) A germline mutation in the ABL1 gene
B) A balanced reciprocal translocation between chromosome 9 and chromosome 22
C) A deletion on chromosome 22q11
D) A gene amplification on chromosome 9
, Page 4 of 114
Answer: B
Rationale: The Philadelphia chromosome results from a balanced reciprocal translocation of the
ABL1 oncogene on chromosome 9 to the end of the BCR gene on chromosome 22, creating the
BCR-ABL fusion gene. This occurs in approximately 90% of CML cases .
5. Which of the following is NOT a characteristic of cancer cells?
A) Increased genome stability
B) Uncontrolled cell growth
C) Ability to spread through blood and lymph nodes
D) Loss of contact inhibition
Answer: A
Rationale: Cancer cells are characterized by genome instability, not increased stability. They
exhibit uncontrolled growth, metastatic potential, and loss of normal regulatory mechanisms
like contact inhibition .
6. A tumor is discovered as a small mass of cells that has not invaded neighboring tissues.
Several months after removal, the patient shows no recurrence. This tumor is best classified
as:
A) Malignant
B) Benign
C) Metastatic
D) Anaplastic
