Genetics Nursing Certification
Examination on Hereditary Risk
Assessment, Genetic Testing, and
Counseling .
**1. A 45-year-old woman reports two first-degree relatives with breast
cancer diagnosed at ages 38 and 42. What is the most appropriate
initial risk assessment tool?**
A. Gail Model
B. Tyrer-Cuzick Model
C. BRCAPro
D. Manchester Scoring System
**Answer: B**
*Rationale:* The Tyrer-Cuzick model includes detailed family history of
breast and ovarian cancer, age at diagnosis, and pathology (ER, HER2,
etc.). BRCAPro is better when BRCA mutation probability is needed, but
Tyrer-Cuzick is more comprehensive for initial risk assessment in this
scenario. Gail model does not use family history of early-onset breast
cancer as extensively.
---
,**2. Which pattern of inheritance is most consistent with hereditary
nonpolyposis colorectal cancer (Lynch syndrome)?**
A. Autosomal recessive
B. Autosomal dominant with incomplete penetrance
C. X-linked dominant
D. Mitochondrial
**Answer: B**
*Rationale:* Lynch syndrome is caused by mutations in mismatch
repair genes (MLH1, MSH2, MSH6, PMS2) and follows autosomal
dominant inheritance with incomplete penetrance (not all carriers
develop cancer).
---
**3. A man has hemophilia A. His daughter is an obligate carrier. What
is the chance that his daughter’s son will have hemophilia?**
A. 0%
B. 25%
C. 50%
D. 100%
**Answer: C**
,*Rationale:* Hemophilia A is X-linked recessive. The daughter (carrier)
has a 50% chance to pass the mutated X to her son, who will be
affected.
---
**4. Which finding on a three-generation pedigree suggests an
autosomal dominant disorder?**
A. Vertical transmission, male-to-male transmission, both sexes
affected
B. Horizontal transmission only
C. All affected individuals are male
D. Consanguinity in parents
**Answer: A**
*Rationale:* Autosomal dominant traits appear in every generation
(vertical transmission), with male-to-male transmission possible, and
both sexes affected equally.
---
**5. A patient’s risk for hereditary cancer is BEST assessed by:**
A. Single nucleotide polymorphism (SNP) panel
B. Personal and family history updated over time
, C. Single genetic test at age 18
D. Blood type analysis
**Answer: B**
*Rationale:* Hereditary risk assessment is a dynamic process requiring
periodic updating of personal and family history as new cancers occur
or family structure changes.
---
**6. A woman’s mother and sister both died of ovarian cancer at ages
50 and 45. The patient is 40 years old. What is her approximate lifetime
risk of ovarian cancer if she carries a BRCA1 mutation?**
A. 5-10%
B. 15-25%
C. 39-44%
D. 60-70%
**Answer: C**
*Rationale:* BRCA1 mutation carriers have an estimated 39-44%
lifetime risk of ovarian cancer (by age 70–80).
---
Examination on Hereditary Risk
Assessment, Genetic Testing, and
Counseling .
**1. A 45-year-old woman reports two first-degree relatives with breast
cancer diagnosed at ages 38 and 42. What is the most appropriate
initial risk assessment tool?**
A. Gail Model
B. Tyrer-Cuzick Model
C. BRCAPro
D. Manchester Scoring System
**Answer: B**
*Rationale:* The Tyrer-Cuzick model includes detailed family history of
breast and ovarian cancer, age at diagnosis, and pathology (ER, HER2,
etc.). BRCAPro is better when BRCA mutation probability is needed, but
Tyrer-Cuzick is more comprehensive for initial risk assessment in this
scenario. Gail model does not use family history of early-onset breast
cancer as extensively.
---
,**2. Which pattern of inheritance is most consistent with hereditary
nonpolyposis colorectal cancer (Lynch syndrome)?**
A. Autosomal recessive
B. Autosomal dominant with incomplete penetrance
C. X-linked dominant
D. Mitochondrial
**Answer: B**
*Rationale:* Lynch syndrome is caused by mutations in mismatch
repair genes (MLH1, MSH2, MSH6, PMS2) and follows autosomal
dominant inheritance with incomplete penetrance (not all carriers
develop cancer).
---
**3. A man has hemophilia A. His daughter is an obligate carrier. What
is the chance that his daughter’s son will have hemophilia?**
A. 0%
B. 25%
C. 50%
D. 100%
**Answer: C**
,*Rationale:* Hemophilia A is X-linked recessive. The daughter (carrier)
has a 50% chance to pass the mutated X to her son, who will be
affected.
---
**4. Which finding on a three-generation pedigree suggests an
autosomal dominant disorder?**
A. Vertical transmission, male-to-male transmission, both sexes
affected
B. Horizontal transmission only
C. All affected individuals are male
D. Consanguinity in parents
**Answer: A**
*Rationale:* Autosomal dominant traits appear in every generation
(vertical transmission), with male-to-male transmission possible, and
both sexes affected equally.
---
**5. A patient’s risk for hereditary cancer is BEST assessed by:**
A. Single nucleotide polymorphism (SNP) panel
B. Personal and family history updated over time
, C. Single genetic test at age 18
D. Blood type analysis
**Answer: B**
*Rationale:* Hereditary risk assessment is a dynamic process requiring
periodic updating of personal and family history as new cancers occur
or family structure changes.
---
**6. A woman’s mother and sister both died of ovarian cancer at ages
50 and 45. The patient is 40 years old. What is her approximate lifetime
risk of ovarian cancer if she carries a BRCA1 mutation?**
A. 5-10%
B. 15-25%
C. 39-44%
D. 60-70%
**Answer: C**
*Rationale:* BRCA1 mutation carriers have an estimated 39-44%
lifetime risk of ovarian cancer (by age 70–80).
---
