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Comprehensive Advanced Practice Genetics Nursing Certification Examination
on Hereditary Cancer and Cardiac Risk Assessment, Pharmacogenomics,
Prenatal and Pediatric Genetic Testing, Ethical Counseling, Variant
Interpretation, and Genomic Healthcare Integration.
Questions 1 – 150 Question 1 A 42-year-old woman with bilateral breast cancer (ER/PR negative, HER2 negative) and a sister with ovarian cancer at
age 44 undergoes germline genetic testing. A BRCA1 variant of uncertain significance (VUS) is identified. What is the
most appropriate clinical management? A) Recommend bilateral mastectomy based on family history B) Manage based on the VUS as if it were pathogenic C) Manage based on personal and family history, not the VUS D) Recommend risk-reducing salpingo-oophorectomy immediately Correct Answer: C
Rationale: A VUS should not be used to guide clinical management. Risk assessment should rely on
personal and family history until the VUS is reclassified.
Question 2 A 60-year-old man with metastatic castration-resistant prostate cancer (mCRPC) has a brother with breast cancer at
age 55. Tumor sequencing reveals a BRCA2 pathogenic variant. What is the most appropriate targeted therapy?
A) Enzalutamide B) Olaparib C) Abiraterone D) Docetaxel Correct Answer: B
Rationale: PARP inhibitors (olaparib, rucaparib) are FDA approved for BRCA-mutated mCRPC after
prior treatment with novel hormonal agents.
Question 3
A couple both test positive for CFTR p.Phe508del heterozygosity and are planning pregnancy. What is the risk that
their child will have cystic fibrosis? A) 0% B) 25% C) 50% D) 75% Correct Answer: B
Rationale: Cystic fibrosis is autosomal recessive. Two carriers have a 25% chance of an affected child
(homozygous) per pregnancy.
Question 4 A 25-year-old man presents with multiple colonic polyps (>100), congenital hypertrophy of the retinal pigment epithelium (CHRPE), and a family history of desmoid tumors. Which gene is most likely responsible?
A) MLH
B) APC
C) MUTYH
D) STK
Correct Answer: B
Rationale: CHRPE and desmoids are hallmark extracolonic manifestations of familial adenomatous
polyposis (FAP) due to APC pathogenic variants.
Question 5 A patient undergoing noninvasive prenatal screening (NIPS) receives a high-risk result for trisomy 21. What is the next best step? A) Terminate the pregnancy based on NIPS B) Offer diagnostic testing via amniocentesis or CVS C) Repeat NIPS in 2 weeks D) Order maternal serum alpha-fetoprotein Correct Answer: B
Rationale: NIPS is a screening test, not diagnostic. Confirmatory diagnostic testing (karyotype or
microarray on fetal cells) is required.
Question 6
A 32-year-old woman with a BRCA1 pathogenic variant has no personal cancer history. What is her estimated lifetime
risk of ovarian cancer by age 70? A) 10-20% B) 30-40% C) 40-60% D) 70-80% Correct Answer: C Rationale: BRCA1 pathogenic variants confer a 40-60% lifetime risk of ovarian cancer. BRCA2 confers 15-20% risk. Question 7
A patient with Li-Fraumeni syndrome (germline TP53 variant) requires surveillance imaging. Which modality is
specifically preferred to minimize radiation exposure? A) Annual CT chest B) Whole-body MRI annually C) PET/CT every 6 months D) Mammography starting at age 20 Correct Answer: B Rationale: Whole-body MRI avoids ionizing radiation, which is critical in TP53 carriers who are hypersensitive to radiation-induced secondary malignancies.
Rationale: Klinefelter syndrome (47,XXY) presents with hypergonadotropic hypogonadism, small
testes, gynecomastia, and infertility.
Question 12
A patient with a CYP2C19 poor metabolizer phenotype (2/2) is prescribed clopidogrel after drug-eluting stent
placement. What is the expected clinical outcome? A) Normal antiplatelet effect B) Reduced active metabolite formation, increased risk of stent thrombosis C) Increased bleeding risk D) Enhanced platelet inhibition Correct Answer: B Rationale: CYP2C19 poor metabolizers cannot convert clopidogrel to its active metabolite, leading to high on- treatment platelet reactivity and increased thrombotic risk. Question 13
A 32-year-old woman with a BRCA1 pathogenic variant is 10 weeks pregnant. She requests prenatal diagnosis for the
familial variant. What is the earliest gestational age for chorionic villus sampling (CVS)? A) 6 weeks B) 10-13 weeks C) 15 weeks D) 18 weeks Correct Answer: B Rationale: CVS is performed at 10-13 weeks gestation. Amniocentesis is performed at 15-20 weeks. Question 14 A 6-month-old infant presents with progressive macrocephaly, irritability, loss of developmental milestones, and cherry-red spots on macula. Enzyme assay shows hexosaminidase A deficiency. What is the inheritance pattern? A) Autosomal dominant B) Autosomal recessive C) X-linked dominant D) Mitochondrial Correct Answer: B
Rationale: Tay-Sachs disease (HEXA deficiency) is autosomal recessive, most common in Ashkenazi
Jewish population.
Question 15
A 45-year-old woman with Lynch syndrome ( MSH2 pathogenic variant) undergoes annual colonoscopy. A 5 mm
sessile serrated polyp is removed. What is the recommended surveillance interval? A) 1 year B) 3 years C) 5 years D) 10 years
Correct Answer: A
Rationale: Lynch syndrome patients with any polyp (including serrated) return to annual colonoscopy
due to accelerated carcinogenesis.
Question 16
A 50-year-old man with a MUTYH biallelic variant (MAP) has a normal colonoscopy at age 45. What surveillance
interval is recommended? A) 5 years B) 1-2 years C) 10 years D) No further surveillance Correct Answer: B Rationale: MAP requires colonoscopy every 1-2 years lifelong, regardless of prior normal findings, due to high risk of rapid adenoma development. Question 17
A 55-year-old woman with a BRCA1 variant and a personal history of triple-negative breast cancer (diagnosed at age
- is in remission. She develops new-onset abdominal bloating and early satiety. CA-125 is 350 U/mL. What is the most likely diagnosis? A) Ovarian cancer B) Primary peritoneal carcinoma C) Diverticulitis D) Irritable bowel syndrome Correct Answer: B Rationale: BRCA1 carriers remain at risk for primary peritoneal carcinoma even after BSO. Elevated CA-125 + symptoms warrant imaging and possible laparoscopy. Question 18 A 2-year-old child with failure to thrive, hepatomegaly, fasting hypoglycemia, and lactic acidosis. Liver biopsy shows glycogen accumulation. The most likely gene involved is:
A) G6PC
B) PYGM
C) GAA
D) PHKA
Correct Answer: A
Rationale: Glycogen storage disease type Ia (von Gierke disease) due to G6PC deficiency presents
with fasting hypoglycemia, lactic acidosis, hepatomegaly.
Question 19
A 28-year-old woman with a TP53 pathogenic variant (Li-Fraumeni syndrome) has a 2-year-old son who is
asymptomatic. What is the recommended cancer surveillance for this child?
Question 23
A 35-year-old woman with a KCNH2 pathogenic variant (LQT2) is planning pregnancy. Which medication must be
strictly avoided throughout pregnancy and postpartum? A) Penicillin B) Ondansetron C) Acetaminophen D) Low-dose aspirin Correct Answer: B
Rationale: Ondansetron prolongs the QT interval and can trigger torsade de pointes in LQT2 patients.
Avoid or use with cardiac monitoring.
Question 24 A 55-year-old man with hereditary hemochromatosis (C282Y homozygous) and ferritin 2500 ng/mL, LFTs normal, no diabetes. He refuses phlebotomy. What is the most significant long-term risk? A) Cirrhosis and hepatocellular carcinoma B) Pancreatitis C) Nephropathy D) Hemolytic anemia Correct Answer: A Rationale: Iron overload leads to cirrhosis (30-50% risk with ferritin >1000) and 200-fold increased risk of hepatocellular carcinoma. Question 25 A 3-month-old infant presents with hypotonia, seizures, and a peculiar "sweaty feet" odor. Plasma ammonia is 300 μmol/L. Organic acids show elevated isovalerylglycine. The most likely diagnosis is: A) Isovaleric acidemia B) Propionic acidemia C) Methylmalonic acidemia D) Maple syrup urine disease Correct Answer: A
Rationale: Isovaleric acidemia presents with metabolic acidosis, hyperammonemia, and
characteristic odor. Elevated isovalerylglycine on organic acids.
Question 26
A 45-year-old woman with a BRCA1 variant and no personal cancer history undergoes annual breast MRI. A BI-RADS
4 lesion is found. What is the next step? A) Repeat MRI in 6 months B) Ultrasound-guided or MRI-guided core needle biopsy C) Bilateral mastectomy D) Clinical breast exam only Correct Answer: B *Rationale: BI-RADS 4 = suspicious for malignancy. Biopsy is required. Not all lesions in BRCA1 carriers are malignant,
but histologic confirmation is mandatory.* Question 27 A 28-year-old man with no family history presents with progressive ataxia, areflexia, extensor plantar responses, and decreased vibration sense. He has scoliosis and hammer toes. The most likely genetic test is:
A) FXN GAA repeat expansion
B) ATXN1 CAG repeat
C) CACNA1A sequencing
D) SPG4 sequencing
Correct Answer: A
Rationale: Friedreich ataxia ( FXN* GAA repeat expansion) presents with progressive ataxia, areflexia, extensor
plantars, loss of vibration/proprioception, scoliosis, and cardiomyopathy.* Question 28
A 30-year-old woman with Li-Fraumeni syndrome ( TP53 variant) is considering preimplantation genetic testing (PGT)
for her next pregnancy. What is the primary ethical consideration? A) PGT is illegal for TP B) The high risk of false negatives C) The potential for discarding embryos with a highly penetrant, adult-onset cancer syndrome D) Cost is the only barrier Correct Answer: C
Rationale: PGT for adult-onset disorders with incomplete penetrance raises ethical concerns about
discarding embryos for conditions that may never manifest or may have late onset.
Question 29 A 2-week-old neonate with cholestatic jaundice, hepatomegaly, and elevated AFP. Newborn screening suggests alpha- 1 antitrypsin deficiency. Confirmatory testing should include:
A) SERPINA1 genotyping for PiZ and PiS
B) CFTR sequencing
C) ATP7B sequencing
D) JAG1 sequencing
Correct Answer: A *Rationale: Alpha-1 antitrypsin deficiency (PiZZ or PiSZ) is a common cause of neonatal
cholestasis. SERPINA1 genotyping confirms.*
Question 30
A 50-year-old man with Lynch syndrome ( MLH1 variant) has a colonoscopy every 1-2 years. He asks about aspirin
chemoprophylaxis. What does evidence show? A) Aspirin (600 mg/day) reduces colorectal cancer risk in Lynch syndrome B) Aspirin increases bleeding risk without benefit C) Only COX-2 inhibitors are effective
A 70-year-old man with hereditary ATTR amyloidosis (Val30Met) had a liver transplant 8 years ago. He now has worsening peripheral neuropathy. What is the most likely explanation? A) Rejection of the liver allograft B) Continued production of mutant TTR from extrahepatic sources (retina, choroid plexus) C) De novo acquired amyloidosis D) Chronic renal failure Correct Answer: B
Rationale: Liver transplant removes the major source of mutant TTR, but extrahepatic production
(retina, choroid plexus) continues and may cause progressive neuropathy.
Question 35
A 28-year-old woman with a BRCA2 variant is considering risk-reducing mastectomy. She asks if nipple-sparing
mastectomy eliminates breast cancer risk. What is the correct response? A) Yes, 100% risk reduction B) Reduces risk by ~90-95%, but a small risk remains due to residual breast tissue in the nipple areolar complex C) Nipple-sparing mastectomy is contraindicated in BRCA carriers D) Only total mastectomy with nipple removal reduces risk Correct Answer: B Rationale: Nipple-sparing mastectomy reduces risk by ~90-95%, but residual breast tissue in the nipple can theoretically still develop cancer, though rare. Question 36 A 6-month-old infant with hypotonia, seizures, and hypopigmented macules on Wood's lamp exam. Brain MRI shows cortical tubers and subependymal nodules. The most likely genetic cause involves which genes?
A) TSC1 or TSC
B) NF
C) VHL
D) PTEN
Correct Answer: A
Rationale: Tuberous sclerosis complex is caused by TSC1 (hamartin) or TSC2 (tuberin) mutations.
Hypopigmented macules and cortical tubers are diagnostic.
Question 37
A 50-year-old woman with a BRCA1 variant and a personal history of triple-negative breast cancer (diagnosed at age
- is in remission. She develops new-onset abdominal bloating and early satiety. CA-125 is 350 U/mL. What is the most likely diagnosis? A) Ovarian cancer B) Primary peritoneal carcinoma C) Diverticulitis D) Irritable bowel syndrome Correct Answer: B *Rationale: BRCA1 carriers remain at risk for primary peritoneal carcinoma even after BSO. Elevated CA-125 +
symptoms warrant imaging and possible laparoscopy.* Question 38 A 30-year-old man with neurofibromatosis type 1 (NF1) has a blood pressure of 160/100 mmHg. Laboratory studies show elevated plasma metanephrines. What is the most likely diagnosis? A) Essential hypertension B) Pheochromocytoma C) Renal artery stenosis D) Coarctation of aorta Correct Answer: B
Rationale: Pheochromocytoma occurs in ~1% of NF1 patients. Elevated metanephrines confirm the
diagnosis.
Question 39
A 45-year-old woman with a PALB2 pathogenic variant is diagnosed with ER+/HER2- breast cancer. She asks about
systemic therapy options. Which agent is particularly effective in PALB2-associated breast cancer? A) Tamoxifen alone B) PARP inhibitor (olaparib) C) Trastuzumab D) Aromatase inhibitor alone Correct Answer: B Rationale: PALB2 functions in the same DNA repair pathway as BRCA2. PARP inhibitors are effective in PALB2- associated breast cancer. Question 40 A newborn with a positive newborn screen for very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is confirmed by molecular testing. What is the most critical immediate intervention? A) High-fat diet B) Avoid fasting, frequent feeding, and IV dextrose during illness C) L-carnitine only D) Liver transplant Correct Answer: B
Rationale: VLCADD management includes avoidance of fasting, frequent carbohydrate-rich feedings,
MCT oil, and IV dextrose during intercurrent illness to prevent hypoketotic hypoglycemia and
cardiomyopathy.
Question 41 A 55-year-old man with hereditary hemochromatosis (C282Y homozygous) and ferritin 800 ng/mL, transferrin saturation 85%, no symptoms. He asks about dietary changes. What is the most evidence-based dietary recommendation? A) Avoid all red meat B) Avoid iron-fortified cereals and vitamin C supplements with meals
resected) asks about genetic testing for her 40-year-old daughter. What is the appropriate counseling? A) Daughter should not be tested until age 50 B) Daughter has a 50% chance of inheriting BRCA2, and testing allows risk-reducing options C) BRCA2 does not increase pancreatic cancer risk D) Testing is only indicated if the daughter has symptoms Correct Answer: B
Rationale: BRCA2 is autosomal dominant. The daughter has a 50% risk of inheriting the variant and
may benefit from enhanced cancer surveillance (breast, pancreatic, prostate).
Question 46 A 2-week- old infant with poor feeding, vomiting, lethargy, and hyperammonemia (ammonia 450 μmol/L). Plasma amino acids show elevated citrulline. The most likely diagnosis is: A) Ornithine transcarbamylase deficiency B) Citrullinemia (ASS1 deficiency) C) Argininosuccinic aciduria D) Carbamoyl phosphate synthetase deficiency Correct Answer: B
Rationale: Elevated citrulline in a neonate with hyperammonemia is diagnostic of citrullinemia ( ASS1*
deficiency). Argininosuccinic aciduria has elevated argininosuccinic acid.* Question 47
A 45-year-old woman with a BRCA1 variant develops a new palpable breast mass. Mammogram and ultrasound
show a 1.5 cm irregular mass, BI-RADS 5. Core biopsy shows invasive ductal carcinoma, ER/PR negative, HER negative. She is premenopausal. What is the most appropriate systemic therapy? A) Tamoxifen B) Cisplatin or carboplatin C) Anastrozole D) Trastuzumab Correct Answer: B Rationale: Platinum agents (cisplatin/carboplatin) are highly active in BRCA1-associated triple-negative breast cancer and are often used in neoadjuvant or adjuvant setting. Question 48 A 35-year-old man with hereditary angioedema (HAE) due to C1INH deficiency presents with acute laryngeal edema. He is unable to swallow. What is the most appropriate immediate treatment? A) Oral tranexamic acid B) Intravenous C1INH concentrate C) Epinephrine D) Diphenhydramine Correct Answer: B Rationale: Laryngeal edema in HAE is life-threatening. IV C1INH concentrate (or icatibant if available) is first-line. Epinephrine is less effective for bradykinin-mediated edema.
Question 49
A 55-year-old man with a BRCA2 pathogenic variant is diagnosed with prostate cancer (Gleason 8, PSA 15 ng/mL). His
brother also has prostate cancer at age 52. What is the recommended treatment approach? A) Active surveillance B) Radical prostatectomy with consideration of PARP inhibitor for metastatic disease C) Androgen deprivation therapy alone D) Observation Correct Answer: B Rationale: BRCA2-associated prostate cancer is more aggressive. Early radical treatment is recommended. PARP inhibitors are reserved for metastatic disease. Question 50 A 6-year-old child with short stature, webbed neck, low posterior hairline, and cubitus valgus. Karyotype is 45,X/46,XX (20% 45,X). What is the most appropriate treatment for short stature? A) No treatment, mosaicism improves growth B) Growth hormone therapy starting at age 4-6 years C) Oxandrolone alone D) Estrogen therapy Correct Answer: B Rationale: GH therapy is FDA approved for Turner syndrome regardless of karyotype to improve final adult height. Start early (4-6 years). Question 51
A 30-year-old woman with a TP53 pathogenic variant (Li-Fraumeni) has a 1.5 cm enhancing mass on brain MRI. What
is the most likely diagnosis? A) Meningioma B) Glioma C) Metastasis D) Schwannoma Correct Answer: B
Rationale: Central nervous system tumors (gliomas, medulloblastomas) are core cancers in Li-
Fraumeni syndrome, especially in children and young adults.
Question 52 A newborn with ambiguous genitalia, 46,XY karyotype, palpable gonads, and normal testosterone but low DHT (or elevated T/DHT ratio). The most likely enzyme deficiency is: A) 21-hydroxylase B) 5-alpha reductase type 2 C) 17-beta-hydroxysteroid dehydrogenase D) Aromatase Correct Answer: B
Rationale: 5-alpha reductase deficiency (SRD5A2 ) presents with undervirilized male, normal testosterone,
D) Observation until ferritin > Correct Answer: B
Rationale: Erythrocytapheresis removes red blood cells and iron in one session, with fewer needle
sticks. Deferasirox is not first-line for hemochromatosis.
Question 57
A 30-year-old man with a pathogenic variant in RYR1 is scheduled for general anesthesia with sevoflurane. What is
the most important prophylactic measure? A) Dantrolene pretreatment B) Avoidance of succinylcholine and volatile anesthetics C) Bicarbonate infusion D) β - blockade Correct Answer: B
Rationale: RYR1 mutations cause malignant hyperthermia susceptibility. Volatile anesthetics
(sevoflurane, desflurane) and succinylcholine are triggers. Avoidance is key; dantrolene is for
treatment, not routine prophylaxis.
Question 58
A 45-year-old woman with a BRCA1 variant undergoes annual breast MRI. A new 0.5 cm enhancing mass with
washout kinetics is found. Biopsy shows atypical ductal hyperplasia (ADH). What is the recommended management? A) Return to annual MRI B) Surgical excision C) Tamoxifen chemoprevention D) Repeat MRI in 6 months Correct Answer: B
Rationale: ADH is a high-risk lesion. Surgical excision is recommended to rule out adjacent ductal
carcinoma in situ or invasive cancer.
Question 59 A 2-year-old child with failure to thrive, chronic diarrhea, recurrent respiratory infections, and a sweat chloride of 40
mmol/L (borderline). Genetic testing shows a CFTR R117H variant with a 5T intronic polymorphism. What is the most
likely diagnosis? A) Classic cystic fibrosis B) CFTR-related metabolic syndrome (CRMS) or mild CF C) Primary ciliary dyskinesia D) Healthy carrier Correct Answer: B Rationale: R117H-5T causes variable CFTR dysfunction, often presenting with mild symptoms or CRMS. Sweat chloride can be borderline or normal. Question 60 A 60-year-old man with hereditary ATTR amyloidosis (Val30Met) develops progressive restrictive cardiomyopathy.
Which medication has been shown to slow progression of ATTR cardiomyopathy? A) Tafamidis B) Patisiran C) Diflunisal D) Doxycycline + tauroursodeoxycholic acid Correct Answer: A
Rationale: Tafamidis (a TTR stabilizer) is FDA approved for ATTR cardiomyopathy and reduces all-
cause mortality and cardiovascular hospitalizations.
Question 61
A 35-year-old woman with a BRCA1 variant and a sister with ovarian cancer (age 42) is considering risk-reducing
salpingo-oophorectomy. What is the recommended age for this procedure in BRCA1 carriers? A) Age 30 B) Age 35-40 (or after childbearing) C) Age 45 D) Age 50 Correct Answer: B Rationale: NCCN recommends risk-reducing BSO for BRCA1 carriers between 35-40 years (or after completion of childbearing). For BRCA2, 40-45 years. Question 62 A 4-year-old child with intellectual disability, seizures, ataxia, and a cherry- red spot. Enzyme assay shows deficient β - galactosidase. The most likely diagnosis is: A) Tay-Sachs B) GM1 gangliosidosis C) Sandhoff disease D) Niemann-Pick type A Correct Answer: B
Rationale: GM1 gangliosidosis ( GLB1* deficiency) presents with cherry-red spot, coarse facies,
hepatosplenomegaly, and neurodegeneration.* Question 63
A 45-year-old man with a BRCA2 pathogenic variant is diagnosed with prostate cancer (Gleason 7, localized). He asks
about the role of PARP inhibitors. What is the correct response? A) PARP inhibitors are first-line for localized disease B) PARP inhibitors are approved for metastatic castration-resistant disease after prior therapy C) PARP inhibitors are only for BRCA1, not BRCA D) PARP inhibitors are used instead of surgery Correct Answer: B
Rationale: PARP inhibitors are approved for BRCA-mutated metastatic castration-resistant prostate
cancer (mCRPC) after progression on enzalutamide or abiraterone.
Rationale: TP53 carriers are hypersensitive to radiation (risk of secondary malignancies). Bilateral
mastectomy avoids radiation and removes contralateral breast risk.
Question 68 A 6-year-old child with recurrent bacterial infections, eczema, thrombocytopenia, and small platelets on smear. The most likely gene involved is:
A) BTK
B) WAS
C) CYBB
D) DKC
Correct Answer: B
Rationale: Wiskott-Aldrich syndrome ( WAS ) presents with eczema, thrombocytopenia (small
platelets), and recurrent infections. X-linked.
Question 69
A 45-year-old woman with a BRCA1 variant and no personal cancer history undergoes annual breast MRI. A new 1.
cm enhancing mass is biopsied and shows fibrocystic changes with no atypia. What is the next step? A) Return to annual MRI B) Surgical excision C) Tamoxifen D) MRI-guided vacuum-assisted biopsy Correct Answer: A
Rationale: Benign findings (fibrocystic changes without atypia) require no additional intervention.
Annual surveillance continues.
Question 70
A 70-year-old man with a BRCA2 pathogenic variant and metastatic pancreatic cancer (diagnosed at age 68) has
progressed on FOLFIRINOX. Which targeted therapy is most appropriate? A) Olaparib B) Erlotinib C) Gemcitabine D) Nab-paclitaxel Correct Answer: A Rationale: PARP inhibitors are approved for BRCA-mutated metastatic pancreatic cancer after at least 16 weeks of first-line platinum-based chemotherapy without progression. Question 71 A 2-year-old child with failure to thrive, hepatosplenomegaly, developmental regression, and a cherry-red spot. Enzyme assay shows sphingomyelinase deficiency. The most likely diagnosis is: A) Niemann-Pick type A B) Gaucher disease type 2
C) Tay-Sachs D) Sandhoff disease Correct Answer: A
Rationale: Niemann-Pick type A ( SMPD1* deficiency) presents with neurodegeneration, cherry-red spot,
hepatosplenomegaly, and early death.* Question 72
A 30-year-old woman with a BRCA2 variant and a strong family history of pancreatic cancer (father at age 48) asks
about pancreatic cancer screening. At what age should screening begin? A) Age 40 B) Age 38 (10 years before youngest family case) C) Age 50 D) No screening Correct Answer: B Rationale: Screening with EUS or MRI should begin at age 50 or 10 years before the earliest pancreatic cancer in the family (whichever is earlier). Here, 10 years before 48 = age 38. Question 73
A 50-year-old man with a MUTYH biallelic variant (MAP) has a normal colonoscopy at age 45. What surveillance
interval is recommended? A) 5 years B) 1-2 years C) 10 years D) No further surveillance Correct Answer: B Rationale: MAP requires colonoscopy every 1-2 years lifelong, regardless of prior normal findings, due to high risk of rapid adenoma development. Question 74
A 45-year-old woman with a BRCA1 variant develops a pelvic mass. Ultrasound shows a complex 4 cm cyst with solid
components and internal flow. CA-125 is 120 U/mL. What is the next step? A) Observation with repeat ultrasound in 6 weeks B) Laparoscopic salpingo-oophorectomy with frozen section C) CA-125 alone D) Pelvic MRI Correct Answer: B
Rationale: Complex ovarian mass in a BRCA1 carrier is highly suspicious for malignancy. Surgical
excision with frozen section is indicated.
Question 75 A newborn with ambiguous genitalia, 46,XX karyotype, and salt-wasting crisis. Serum 17-hydroxyprogesterone is 40,000 ng/mL. What is the most appropriate long-term management?
