Table 1.
Syndrome | MIM No.* | Gene(s) | Patients meeting clinical criteria with mutation,% | Population incidence | Cancer risks |
---|---|---|---|---|---|
Familial adenomatous polyposis (FAP) | 175000 | APC | 90 | 1/5000 | Colorectal, duodenal, papillary thyroid, pancreatic, hepatoblastoma, CNS tumors |
MYH-adenomatous polyposis | 608456 | MYH | Unknown | 1/5000 | Colorectal tumors, other? |
Hyperplastic polyposis syndrome | NA | NA | 1/100,000 | Colorectal tumors, other? | |
Hereditary mixed polyposis syndrome | 601228 | CRAC1 | NA | NA | Colorectal tumors, other? |
Juvenile polyposis/hemorrhagic telangiectasia syndrome | 175050 | SMAD4 | 20–40 | 1/100,000 | Colorectal, gastric, duodenal, pancreatic tumors |
Juvenile polyposis syndrome | 174900 | BMPR1A | 20–40 | 1/100,000 | Colorectal, gastric, duodenal, pancreatic tumors |
Cowden syndrome | 158350 | PTEN | 80–85 | 1/200,000 | Breast, thyroid, uterine, melanoma, renal cell tumors |
Peutz–Jeghers syndrome | 175200 | STK11 | 50 | 1/30,000–1/100,000 | Colorectal, small intestine, stomach, breast, pancreatic, sex-cord tumors |
Birt–Hogg–Dube syndrome | 135150 | BHD | 50–70 | 1/200,000 | Renal tumors, other? |
CNS, central nervous system; MIM, Mendelian Inheritance in Man; NA, not available.
From Online Mendelian Inheritance in Man (142).
Republished by permission from Sweet et al. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 294(19):2465-2473, November 16, 2005. Copyright © 2005 by the American Medical Association. All rights reserved.