Inflammatory Bowel Disease USMLE Step 1 Practice Question
A 19-year-old woman presents with abdominal pain and diarrhea. Colonoscopy reveals hundreds of adenomatous polyps throughout the colon. Vital signs show BP 118/76 mmHg, HR 88 bpm, RR 16/min, temperature 37.2°C, and SpO2 98% on room air. Labs demonstrate hemoglobin 13.8 g/dL and normal inflammatory markers. Her father developed colon cancer at age 35. She denies rectal bleeding. Which genetic mutation most likely explains her polyp burden and cancer risk?
Answer choices
- AVHL gene mutation
- BRET proto-oncogene mutation
- CAPC tumor suppressor gene mutationCorrect answer
- DMLH1 mismatch repair gene mutation
- ETP53 germline mutation
- FSMAD4 tumor suppressor gene mutation
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