Oncogenes Flashcards
PDGFB
platelet-derived growth factor
overexpression, autocrine loop
astrocytoma
ERBB2 (HER2/neu)
epidermal growth factor receptor
amplification
breast and ovarian cancer
treat with trustuzimab
RET
neural growth factor R
point mutation
MEN 2A, 2B, amd sporadic medullary carcinoma of thyroid
KIT
stem cell growth factor receptor
point mutation
gastrointestinal stromal tumor
RAS gene family
signal transducer, GTP-binding protein
point mutation
carcinomas, melanoma, lymphoma
ABL
signal transducer, tyrosine kinase
t(9:22) with BCR
CML and some ALL
c-MYC
neural regulator, transcription factor
t(8;14) involving IgH
Burkitt lymphoma
N-MYC
neural regulator, transcription factor
amplification
neuroblastoma
L-MYC
neural regulator, transcription factor
amplificastion
lung carcinoma (small cell)
CCND1 (cyclin D1)
cell cycle regulator, cyclin
t(11;14) involving IgH
mantle cell lymphoma
CDK4
cell cycle regulator, cyclin-dependant kinase
amplification
melanoma
p53
tumor suppressor gene, regulates progression from G1 to S
if DNA repair impossible, induces apoptosis by upregulating BAX, which disrupts Bcl2, causes cyt-c to leak from inner mito membrane
both copies must be knocked out for tumor formation
germline mutation- Li-Fraumeni
Rb
tumor suppressor gene, regulates progresison from G1 to S
Rb holds E2F transcription factor, released when Rb is phosphorylated by cyclinD/CDK4 complex (inactive Rb)
mutation causes free relase of E2F, unregulated growth
both copies knocked out for tumor production
Germline- familial bilateral retinoblastoma, osteosarcoma
Bcl2
prevents apoptosis in normal cells, stabilizes mito membrane, disruption causes apoptosis (leak cyt c)
overexpressed in t(14;18) follicular lyphoma
