Hereditary Colo rectal syndromes

Familial Adenomatous Polyposis (FAP)

  1. Autosomal dominant, APC gene chromosome 5q21
  2. Multiple colonic polyps, stomach polyps, duodenal and periampullary cancers
  3. Extra intestinal manifestations occur in FAP- desmoid abdomen, osteomas, epidermoid cyst,  brain tumors
  4. Duodenal polyps are pre malignant
  5. Other malignancies are predisposition to GB cancer, bile ducts, pancreas, adrenal, thyroid

Subtypes of FAP are Gardner and Turcot

Gardner has CEO - (colonic polyps, epidermal inclusion cysts, osteomas)

Turcot - Colon polyps and Brain tumors