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Genetics of Colorectal Cancer (PDQ®)
Health Professional Version   Last Modified: 12/19/2008
Table 2. Major Genes Associated with Risk of Colorectal Cancer

Gene   Syndrome   Hereditary Pattern   Predominant Cancer  
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 (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

FAP = familial adenomatous polyposis; GI = gastrointestinal; OMIM = Online Mendelian Inheritance in Man database.
Adapted from Vogelstein et al.[2]

References

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


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