Neoplasia USMLE Step 1 Practice Question
A 35-year-old woman presents with abdominal pain and is found on colonoscopy to have multiple adenomatous polyps throughout her colon. She also has osteomas of the jaw, congenital hypertrophy of the retinal pigment epithelium, and a family history of early-onset colorectal cancer. Vital signs are stable; temperature is 37°C. Colonoscopic biopsy confirms adenocarcinoma in one polyp. She denies prior polyp history or inflammatory bowel disease. Which genetic mutation best explains her presentation?
Answer choices
- ATP53 tumor suppressor gene mutation
- BAPC tumor suppressor gene mutationCorrect answer
- CBRCA1 gene mutation
- DKRAS proto-oncogene mutation
- EMLH1 mismatch repair gene mutation
- FSMAD4 tumor suppressor gene mutation
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