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?
- A)TP53 tumor suppressor gene mutation
- B)APC tumor suppressor gene mutationGABARITO
- C)BRCA1 gene mutation
- D)KRAS proto-oncogene mutation
- E)MLH1 mismatch repair gene mutation
Explicação
Familial adenomatous polyposis (FAP) is caused by APC gene mutations, presenting with hundreds of adenomatous polyps, osteomas, congenital hypertrophy of retinal pigment epithelium (CHRPE), and desmoid tumors. Nearly 100% develop colorectal cancer if untreated... Ver explicação completa e trilha adaptativa →