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Osteoma
Skin Cysts
Polyps
Gardner Syndrome
Polyps
CNS Tumors (Ej: Medulloblastoma)
Turcot Syndrome
APC mutation + KRAS + p53
Invasive Adenocarcinoma (adenoma carcinoma sequence)
APC mutation in colon
Familial Adenomatous Polyposis
- Gardner Synd
- Turcot Synd
- Invasive adenocarcinma (+KRAS +p53)
APC Mutation Pathogenesis
APC loss = Increase B-Catenin
More than 100 Polyps in colon.
Microsatellite instability (MSH2)
Lynch Syndrome (HNPCC)
Right sided colon cancer with endometrial cancer
Familial (few polyps)
Lynch syndrome (HNPCC)
Variant of Lynch Syndrome with skin tumors (sebaceous adenoma)
Muir Torre Syndrome