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 | |||
| MLH1 (OMIM), MSH2 (OMIM), MSH6 (OMIM), PMS2 (OMIM) | Lynch (OMIM) | Dominant | Multiple (including colon, uterus, and others) |
| EPCAM (TACSTD1) (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
- Vogelstein B, Kinzler KW: Cancer genes and the pathways they control. Nat Med 10 (8): 789-99, 2004. [PUBMED Abstract]
