Table of contents
- 1. Mutations
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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
- Associations:
- Li-Fraumeni Syndrome
- Associated with:
- Breast Cancer
- Sarcoma, brain tumors, leukemia
- Associated with:
- 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
- GI hamartomatous polyps
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