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. Author manuscript; available in PMC: 2015 Dec 30.
Published in final edited form as: Am J Gastroenterol. 2015 Feb 3;110(2):223–263. doi: 10.1038/ajg.2014.435

Table 5.

Cumulative risks of colorectal cancer in hereditary colorectal cancer syndromes

Syndrome Gene Risk Average age of diagnosis (years) References
Sporadic cancer 4.8% 69 SEER(303)
Lynch syndrome MLH1/MSH2 M: 27–74%
F: 22–61%
27–60 (3035,38)
MSH6 M: 22–69%
F: 10–30%
M/F: 12%
50–63 (31,36,49,64)
PMS2 M: 20%
F: 15%
47–66 (37)
Familial adenomatous polyposis (FAP) APC 100% 38–41 (81,123,126,316)
Attenuated FAP APC 69% 54–58 (88,90,126,317319)
MUTYH-associated polyposis MUTYH 43–100% 48–50 (109,126,134,135,319)
Juvenile polyposis SMAD4
BMPR1A
38–68% 34–44 (126,220)(320323)
Peutz–Jeghers syndrome STK11 39% 42–46 (126,196,197)
Cowden syndrome PTEN 9–16% 44–48 (224,235,236,324)
Serrated polyposis syndrome Not known ~>50% 48 (243,254)

F, female; M, male.