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. Author manuscript; available in PMC: 2010 Mar 29.
Published in final edited form as: Clin Genet. 2009 Jul;76(1):1–18. doi: 10.1111/j.1399-0004.2009.01230.x

Table 1.

Incidence and cancer risks for known polyposis syndromes

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.