Tumor Suppressor genes Flashcards
APC
Assoc. condition: colorectal cancer (assoc. with FAP)
Gene product: Negative regulator of b-catenin, WNT pathway
BRCA1/BRCA2
Assoc. condition: breast and ovarian cancer
Gene product: DNA repair protein
CDKN2A
Assoc. condition: melanoma, pancreatic cancer
Gene product: p16, blocks G1 –> S phase
DCC
Assoc. condition: colon cancer
Gene product: DCC - Deleted in Colon Cancer
DPC4/SMAD4
Assoc. condition: pancreatic cancer
Gene product: DPC - Deleted in Pancreatic Cancer
MEN1
Assoc. condition: MEN1
Gene product: menin
NF1
Assoc. condition: neurofibromatosis type 1
Gene product: Ras GTPase activating protein (neurofibromin)
NF2
Assoc. condition: neurofibromatosis type 2
Gene product: merlin (schwannomin) protein
PTEN
Assoc. condition: breast cancer, prostate cancer, endometrial cancer
Gene product: tyrosine phosphatase of PIP3 (e.g. protein kinase B [AKT] activation)
Rb
Assoc. condition: retinoblastoma, osteosarcoma
Gene product: inhibits E2F, blocks G1 –> S phase
TP53
Assoc. condition: most human cancer, (Sarcoma, Breast, Leukemia, Adrenal gland), Li-Fraumeni syndrome
Gene product: p53, activates p21, blocks G1 –> S phase
TSC1
Assoc. condition: tuberous sclerosis
Gene product: hamartin protein
TSC2
Assoc. condition: tuberous sclerosis
Gene product: tuberin protein
VHL
Assoc. condition: von Hippel-Lindau dz, renal cell carcinoma
Gene product: inhibits hypoxia inducible factor 1a
WT1/WT2
Assoc. condition: Wilms tumor (nephroblastoma)
Gene product: transcription factor that regulates urogenital development