From: Familial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes
Syndromes with preexisting polyposis | ||
---|---|---|
Disease | Gene | Disease Phenotype |
Familial Adenomatous Polyposis | APC | colonic polyposis |
Gardner's Syndrome | APC | colonic polyposis in association with extra colonic lesions |
Oldfield's Syndrome | APC | colonic polyposis in association with sebaceous cysts |
Turcot's Syndrome* | APC | malignant tumors of the central nervous system in association with polyposis of the colon |
Syndromes with preexisting hamartomatous polyps | ||
Peutz-Jeghers syndrome | LKB1/STK11 | abnormal pigmentation on the lips and buccal mucosa |
Ruvalcaba-Myhre-Smith syndrome (Bannayan-Riley-Ruvalcaba Syndrome) | Unknown | macrocephaly, pigmented macules on the penis |
Juvenile polyposis | SMAD4 (DPC) | cystic hamartomatous polyps |
Cowden's syndrome | PTEN | multiple hamartomatous lesions, primarily on the mucocutaneous tissue) |
Syndromes without preexisting polyposis | ||
Hereditary non-polyposis colorectal cancer (Lynch Type I and Type II syndromes) | hMSH2 hMLH1 hPMS1 hPMS2 hMSH6 | few if any polyps, CRC tends to be site specific |
Muir-Torre's Syndrome# | hMSH2 | Lynch type II syndrome with dermatological lesions and laryngeal cancer |
Turcot's Syndrome* | hMSH2 hMLH1 | Glioblastoma Multiforme Astrocytoma grades 3 or 4 |