Tumor suppressor genes (LOF) Flashcards
APC
Colorectal cancer (~ FAP)
BRCA1/BRCA2
Breast and ovarian –> DNA repair protein
CDKN2A
Melanoma, pancreatic cancer –> p16, blocks G1 to S phase
DCC
Colon cancer –> Deleted in Colon Cancer
DPC4/SMAD4
Pancreatic cancer –> Deleted in Pancreatic Cancer
MEN1
MEN1 = menin
NF1
Neurofibromatosis 1 –> Ras GTPase activating protein (neurofibromin)
NF2
Neutrofibromatosis 2 –> Merlin (shwannomin) protein
PTEN
Breast cancer, prostate cancer and endometrial cancer
Rb
Retinoblastoma, osteosarcoma –> Inhibits E2F; blocks G1->S
TP53
Most human cancers, Li-Fraumeni syndrome –> p53, activates p21, blocks G1->S
TSC1
Tuberous sclerosis –> Hamartin protein
TSC2
Tuberous sclerosis –> Tuberin protein
VHL
von Hipperl-Lindau disease, renal cell carcinoma –> inhibits hypoxia inducible factor 1a
WT1/WT2
Wilms Tumor (nephroblastoma)