Oncology

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