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 |