National Cancer Institute National Cancer Institute
U.S. National Institutes of Health National Cancer Institute
NCI Home Cancer Topics Clinical Trials Cancer Statistics Research & Funding News About NCI
Genetics of Colorectal Cancer (PDQ®)
Health Professional VersionLast Modified: 09/23/2008
Table 2. Major Genes Associated with Risk of Colorectal Cancer

Gene   Syndrome   Hereditary Pattern   Predominant Cancer  
Adapted from Vogelstein et al.[2]
Tumor suppressor genes
APC (OMIM) FAP (OMIM) Dominant Colon, intestine, etc.
AXIN2 (OMIM) Attenuated Polyposis (OMIM) Dominant Colon
TP53 (p53) (OMIM) Li-Fraumeni (OMIM) Dominant Multiple (including colon)
STK11 (OMIM) Peutz-Jeghers (OMIM) Dominant Multiple (including intestine)
PTEN (OMIM) Cowden (OMIM) Dominant Multiple (including intestine)
BMPR1A (OMIM) Juvenile Polyposis (OMIM) Dominant Gastrointestinal
SMAD4 (DPC4) (OMIM) Juvenile Polyposis (OMIM) Dominant Gastrointestinal
Repair/Stability genes
hMLH1 (OMIM), hMSH2(OMIM), hMSH6(OMIM), PMS2 (OMIM) Lynch syndrome (OMIM) Dominant Multiple (including colon, uterus, and others)
MYH (MutYH) (OMIM) Attenuated Polyposis (OMIM) Recessive Colon
BLM (OMIM) Bloom (OMIM) Recessive Multiple (including colon)
Oncogenes
KIT (OMIM) Familial GI Stromal Tumor (OMIM) GI stromal tumors
PDGFRA (OMIM) Familial GI Stromal Tumor (OMIM) GI stromal tumors

References

  1. Vogelstein B, Kinzler KW: Cancer genes and the pathways they control. Nat Med 10 (8): 789-99, 2004.  [PUBMED Abstract]


A Service of the National Cancer Institute
Department of Health and Human Services National Institutes of Health USA.gov