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TSG Path

QuestionAnswer
Tumor suppressor-definition Loss of function-- increase cancer risk---two alleles of a TSG must be lost for expression of disease.
APC Negative regulator of beta catenin/ WNT pathway. Related to colorectal cancer (assoc with FAP)
BRCA1/BRCA2 DNA repair protein---- breast, ovarian, and pancreatic cancer
CDKN2A p16, blocks G1---S phase......related melanoma, pAncreatic cancer
DCC Deleted Colon Cancer----Colon cancer
DPC4/SMAD4 Deleted Pancreatic cancer----pancreatic cancer
MEN1 Menin---MEN1
NF1 Neurofibromin (RAS GTPase activating protein) Neurofibromatosis type 1
nF2 Merlin(schwannomin) protein--- Neurofibromatosis type 2
PTEN Tyrosine phosphatase of PIP3(protein kinase, B (akt) activation)-----Breast cancer, prostate cancer, endometrial cancer
Rb Inhibits E2F; blocks G1-- S phase.....retinoblastoma, osteosarcoma
TP53 P53, activates p21, blocks G1--S phase most human cancers, Li- fraumeni syndrome; SBLA cancer syndrome: Sarcoma, Breast, Leukemia, Adrenal gland
TSC1 Harmatin protein---- tuberous sclerosis
TSC2 Tuberin protein--- Tubeorus slcerosis
VHL Inhibits hypoxia inducible factor 1a----- von Hippel Lindau dx
WT1 Transcription factor that regulates urogenital development----Wilms tumor (nephroblastoma)
Created by: Cdmac91