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genetic testing

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

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

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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?

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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?

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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?

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Which genetic variant classification most strongly mandates clinical action?

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

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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?

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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?

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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?

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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?

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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?

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