Colon carcinoma is associated with all except:
- Rb gene mutation is associated with Retinoblastoma of eye not Colon cancer. Genetic risk factors of colon cancer: HNPCC / Lynch syndrome/ CEO syndrome caused d/t defect in DNA mismatch repair genes resulting in microsatellite instability - Cancer. FAP caused d/t defect in APC/b-catenin pathway resulting in- increased adenomatous polyps - increased risk of colon cancer Etiology Molecular defect Target gene Transmission Familial adenomatous polyposis APC/WNT pathway APC Autosomal dominant Hereditary nonpolyposis colorectal cancer DNA mismatch repair MSH2, MLH1 Autosomal dominant Sporadic colon cancer APC/WNT pathway APC None Sporadic colon cancer DNA mismatch repair MSH2, MLH1 None
Rb
Mismatch repair genes
APC
b-catenin
Intestinal Polyps, Colon & Anal Cancer