Oncology

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    Mutations

    • Familial Adenomatous Polyposis (FAP)
      • Aggressive distal colonic lesions in background of colonic polyposis
      • Other associations:
        • Duodenal polyps
        • Gastric Ca
        • Abdominal desmoid tumors
    • Hereditary Nonpolyposis Colorectal Cancer (HNPCC aka Lynch Syndrome)
      • Associations:
        • R-sided colon cancer
        • Endometrial cancers
        • Less commonly: ovary, stomach, small bowel, pancreas, HPB, brain, upper urothelial
      • Compared with FAP, it causes larger, less aggressive R-sided colon cancers that are more responsive to chemo
    • Li-Fraumeni Syndrome
      • Associated with:
        • Breast Cancer
        • Sarcoma, brain tumors, leukemia
    • BRCA Mutations
      • Breast Cancer
      • Ovarian Cancer
      • Less Commonly: Pancreatic and prostate
    • Peutz-Jeghers Syndrome
      • GI hamartomatous polyps
        • Small, dark-colored spots on lips, inside mouth, near eyes, and nostrils, around anus.
      • Increased risk of cancers:
        • GI tract
        • Pancreas
        • Cervix
        • Ovary
        • Breast
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