Test 2 memorisation Flashcards
(28 cards)
RET
Receptor for Neurotrophic factors
a pt mutation of which is associated w/multiple endocrine neoplasia 2A and B, familial medullary thyroid carcinomas
KIT
Receptor for KIT ligand
a pt mutation of which is associated w/GI stromal tumors, seminomas, leukemias
KRAS
a GTP-binding protein
a pt mutation of which is associated with colon, lung, pancreatic tumors
JAK2
JAK/STAT signal transduction
a translocation that is associated with myeloproliferative disorders
acute lymphoblastic leukemia
MYC/NMYC
transcriptional activators, in which
a translocation is associated with Burkitt lymphoma
a amplification is associated with neuroblastoma
CDK4
Cyclin-dependent kinase
an amplification/point mutation is associated with glioblastoma, melanoma, sarcoma
APC
tumor suppressor gene
makes adenomatous polyposis coli protein
inhibits WNT signaling
associated with familial colonic polyps and carcinomas, carcinomas of stomach, colon, pancreas; melanoma
NF1
tumor suppressor gene
makes neurofibromin-1
inhibits RAS/MAPK signaling
associated with neurofibromatosis type 1 and neuroblastoma, juvenile myeloid leukemia
RB
tumor suppressor gene
makes retinoblastoma protein
inihibits G1/S transition during cell cycle progression
associated with familial retinoblastoma syndrome, retinoblastoma; osteosarcoma carcinomas of breast, colon, lung
TP53
makes p53 protein
arrests cell cycle and commences apoptosis in response to DNA damage
associated with Li-Fraumeni syndrome + most human cancers
Mesothelioma
malignant mesothelium tumor
Seminoma
malignant testicular epithelium (germ cells) tumor
Hamartomas
Disorganized by benign masses
Choristoma
Heterotopic rest of cells, somewhere where it’s not supposed to be
PDGFB
Overexpression will lead to astrocytoma
HST1, FGF3
are fibroblast growth factors, overexpression of which leads to osteosarcoma. amplification of which leads to stomach, bladder, breast cancers; meianoma
TGF-A
overexpression of which leads to astrocytomas
HGF
overexpression of which leads to hepatocellular carcinomas, thyroid cancer
ERBB1/2
mutation of which leads to adenocarcinoma of lung
amplification of which leads to breast carcinoma
FLT3
a FMS-like tyrosine kinase 3. a point mutation of which leads to leukemia
PDGFRB
PDGF receptor, the overexpression of which will lead to gliomas. amplification of which will lead to leukemias
ALK
ALK receptor. translocation of which causes adenocarcinoma of lung. fusion gene formation of certain lymphomas. point mutation leads to neuroblastoma
ABL
a nonreceptor tyrosin kinase, a translocation of which leads to chronic myelogenous leukemia. point mutation of which leads to acute lymphoblastic leukemia
BRAF
RAS signal transduction. a point mutation/translocation causes melanomas, leukemias, colon carcinoma, others