Tumor suppressor genes Flashcards
APC gene product + associated neoplasm
Negative regulator of B-catenin/WNT pathway
CRC, associated with FAP
BRCA1/BRCA2 gene product + associated neoplasm
DNA repair protein (repairs double strand breaks)
Breast, ovarian and pancreatic cancer
NF1 gene product + associated neoplasm
Neurofibromin (Ras GTPase activating protein)
Neurofibromatosis 1
NF2 gene product + associated neoplasm
Merlin (schwannomin) protein
Neurofibromatosis 2
Rb gene product + associated neoplasm
Inhibits E2F, blocks G1 → S transition
Retinoblastoma, osteosarcoma
TP53 gene product + associated neoplasm
p53, activates p21; blocks G1 → S transition Li Fraumeni (SBLA → sarcoma, breast, leukemia, adrenal cancers), etc
CDKN2A gene product + associated neoplasm
p16, blocks G1 → S transition
Melanoma, pancreatic cancer
TSC1 gene product + associated neoplasm
Harmatin protein
Tuberous sclerosis
TSC2 gene product + associated neoplasm
Tuberin protein
Tuberous sclerosis
VHL gene product + associated neoplasm
Inhibits hypoxia inducible factor 1a, von Hippel Landau dz
WT1 gene product + associated neoplasm
Transcription factor that regulates urogenital development Wilms tumor (nephroblastoma)
PTEN gene product + associated neoplasm
Tyrosine phosphatase of PIP3
Breast, prostate, and endometrial cancer
MEN1 gene product + associated neoplasm
Menin
MEN 1
DCC
DCC, deleted in colon cancer
Colon cancer
DPC4/SMAD4
DPC, deleted in pancreatic cancer
Pancreatic cancer