Skip to main content
. Author manuscript; available in PMC: 2015 Feb 1.
Published in final edited form as: Gut. 2013 Aug 14;63(2):326–336. doi: 10.1136/gutjnl-2012-304121

Table 1. Known high-penetrance mutations in genes contribute to familial colorectal cancer.

Gene Variants Hereditary syndrome Population frequency References
APC Nonsense or frameshift mutations Familial adenomatous polyposis 0.01-0.02% 6, 7
MLH1 Truncating and missense mutations Lynch syndrome 0.10% 6, 8
MSH2 Truncating and missense mutations Lynch syndrome <0.1% 6, 8
MSH6 Truncating and missense mutations Lynch syndrome <0.05% 6, 8
PMS2 Truncating and missense mutations Lynch syndrome <0.05% 6, 8
STK11 Multiple mutations Peutz-Jeghers syndrome 0.0005-0.01% 9, 10
BMPR1A Multiple mutations Juvenile polyposis syndrome <0.0005% 10
SMAD4 Multiple mutations Juvenile polyposis syndrome <0.0005% 10
MUTYH Nonsense and missense mutations MUTYH-associated polyposis <0.02% 11, 12