Controls the function of specific transcription factors which are involved in tumorigenesis, and development and homeostasis of some cell types including epithelial and lymphoid cells.
APC has also been implicated in cell proliferation and other cellular activities such as migration, and adhesion.
Familial adenomatous and non-inherited colorectal carcinomas
(1)(2)
BRCA1, BRCA2
DNA Damage Repair
Inherited breast cancers; ovarian cancers
(3)
CDKN2A
Gene locus that encodes the tumor suppressors p16 and p14ARF.
Brain tumors
1 (4)
DCC
Netrin-1 receptor. Regulation of cell proliferation and apoptosis of intestinal epithelium.
Colorectal carcinomas
(5)(6)(7)
DPC4 (SMAD4)
Transciptional factor involved in development; Implicated in metastasis and tumor invasiveness.
Colorectal tumors, pancreatic neoplasia
(8)(9)
MADR2/JV18 (SMAD2)
Mediates signaling from growth factor receptors. Assists in transport of SMAD4 into nucleus.
Colorectal cancer
(10)(11)
MEN1
Codes for the menin protein that interacts with transcription factors, DNA repair proteins, cytoskeletal proteins and others. Function not clearly defined.
Multiple endocrine neoplasia type 1
(12)
MTS1
Inhibitor of cyclin-dependent kinases; regulates cell cycle passage from G1 into S.
Melanomas
(13)
NF1
RAS GTPase activating protein (RAS-GAP)
Neurofibromatosis type 1
(14)
NF2
ERM protein; organize plasma membrane by assembling protein complexes and linking them to actin.
Neurofibromatosis type 2
(15)
p53
Encodes a transcription factor for p21, a protein that arrests the cell cycle in G1 phase. p53 integrates signals related to cell size, DNA integrity and chrommosome replication.
Bladder, breast, colorectal, esophageal, liver, lung, prostate, and ovarian carcinomas; brain tumors, sarcomas, lymphomas, and leukemias
(16)
PTEN
Lipid phosphatase. Regulates cell survival
Cowden syndrome; increased risk of breast and thyroid cancer
2 (17)
Rb
Binds to, and inhibits, the E2F transcription factor. Halts cell cycle progression
Retinoblastoma, sarcomas; bladder, breast, esophageal, prostate, and lung carcinomas
(18)
VHL
Cell cycle regulation. May increase stability and activity of p53
Renal cell carcinomas
1 (19)
WRN
DNA helicase and exonuclease. Involved in repair of DNA breaks.
Werner syndrome
2 (20)
WT1
Transcription factor. Essential role in development.
Wilms tumors (pediatric kidney cancer)
1
* The cancer types listed in this column are those that are predominantly associated with each tumor suppressor gene but this is not an exhaustive list.
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