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?

  1. A)VHL gene mutation
  2. B)RET proto-oncogene mutation
  3. C)APC tumor suppressor gene mutationGABARITO
  4. D)MLH1 mismatch repair gene mutation
  5. E)TP53 germline mutation

Explicação

Familial adenomatous polyposis is caused by germline mutation of the APC tumor suppressor gene leading to innumerable colonic adenomas. Ver explicação completa e trilha adaptativa →

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