genetic testing

Practice targeted AMC-style multiple-choice questions on genetic testing.

For which condition is predictive genetic testing in an asymptomatic minor generally *not* recommended?

A. Huntington's disease

B. Alpha-1 Antitrypsin Deficiency

C. Cystic Fibrosis

D. Familial Adenomatous Polyposis

E. Hereditary Hemochromatosis

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A 28-year-old woman with a mother diagnosed with colorectal cancer at 45 and a maternal uncle at 50 seeks advice. She is otherwise well. What is the most appropriate next step in her management?

A. Annual FIT testing.

B. Consider prophylactic colectomy.

C. Genetic counselling and testing.

D. Colonoscopy screening at 40.

E. Reassurance and review.

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Following a positive genetic test for a hereditary cancer syndrome, what is the most important next step for the patient's family?

A. Advise increased cancer screening for all family members.

B. Offer genetic counselling and cascade testing to at-risk relatives.

C. Recommend prophylactic surgery for all first-degree relatives.

D. Focus solely on lifestyle changes for risk reduction.

E. Inform family the risk is only for future children.

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A 45-year-old woman has a mother diagnosed with colorectal cancer at age 55 and a maternal aunt with endometrial cancer at age 60. What is the most appropriate initial step regarding genetic testing for hereditary cancer syndrome?

A. Advise increased surveillance with colonoscopy every 5 years starting now.

B. Order germline testing for MLH1, MSH2, MSH6, and PMS2 genes.

C. Referral to a familial cancer clinic for risk assessment and counselling.

D. Order tumour testing for microsatellite instability (MSI) and immunohistochemistry (IHC).

E. Reassure the patient that this family history is not strongly suggestive of a hereditary syndrome.

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Which genetic variant classification most strongly mandates clinical action?

A. Pathogenic

B. Benign

C. Variant of uncertain significance (VUS)

D. Likely benign

E. Likely pathogenic

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A patient has a pathogenic variant in MLH1 identified via genetic testing. What cancer screening is most strongly indicated?

A. Colonoscopy every 1-2 years from age 25

B. Gastroscopy every 3-5 years from age 50

C. Annual mammography from age 30

D. Renal ultrasound every 2 years from age 30

E. Annual PSA testing from age 40

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A 28-year-old woman presents for a check-up, reporting occasional mild abdominal discomfort. Her father was diagnosed with colorectal cancer at age 48, and his tumour showed microsatellite instability. A paternal aunt had endometrial cancer at 55. Physical exam is normal. What is the most appropriate next step regarding genetic testing?

A. Order a colonoscopy immediately.

B. Test for FAP-associated genes.

C. Order faecal occult blood testing.

D. Offer genetic counselling and testing for Lynch syndrome.

E. Reassure and advise standard screening at age 50.

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A 35-year-old woman with a family history of BRCA1-associated breast cancer is considering genetic testing. She is asymptomatic and has no personal history of cancer. What is the MOST appropriate initial step in her management?

A. Ordering a BRCA1/2 gene mutation analysis

B. Prescribing prophylactic tamoxifen

C. Suggesting prophylactic bilateral mastectomy

D. Recommending annual mammography starting at age 25

E. Referral to a clinical geneticist or genetic counselor for pre-test counseling and risk assessment

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A 33-year-old lady has an HNPCC gene mutation and two sisters with bowel cancer. She reports no change in bowel habits. What is the best surveillance for bowel cancer in this patient?

A. Annual or biennial colonoscopy starting now; discuss aspirin.

B. Colonoscopy at age 40, then every 5 years.

C. Annual iFOBT starting now.

D. Refer to a bowel cancer specialist.

E. Immediate colonoscopy, 5-year repeat, 2-year iFOBT, aspirin at 50.

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Image by RadsWiki — CC BY-SA 3.0 · Source

A 2-year-old child is evaluated for a 6-week history of increasing abdominal girth, decreased appetite, and occasional bone pain. Physical examination reveals a large, firm, irregular mass in the upper abdomen that appears fixed and crosses the midline. Vital signs are within normal limits for age. Initial investigations show mild anaemia and elevated serum lactate dehydrogenase. An abdominal CT scan is performed (image provided). Given the findings demonstrated in the image and the clinical context, which of the following molecular or genetic analyses is considered a critical determinant of risk stratification and influences treatment intensity for the most likely underlying malignancy?

A. BCR-ABL fusion transcript detection

B. TP53 gene sequencing

C. WT1 gene mutation analysis

D. ALK gene mutation analysis

E. MYCN amplification status

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A 35-year-old woman with a strong family history of breast cancer (mother and sister diagnosed before age 40) is concerned about her risk. What is the most appropriate genetic testing for this patient?

A. HER2/neu testing

B. KRAS mutation testing

C. p53 mutation testing

D. Estrogen receptor testing

E. BRCA1/BRCA2 mutation testing

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A 35yo woman's mother died of ovarian cancer at 45, and her paternal aunt had breast cancer at 50. She is concerned about her risk. What is the most appropriate initial step regarding genetic testing?

A. Reassure and advise lifestyle changes

B. Order BRCA1/BRCA2 testing

C. Refer for genetic counselling

D. Order mammography and pelvic ultrasound

E. Order a multi-gene panel

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genetic testing

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