Tumor Suppressor Genes Flashcards
normal function of p53
regulates cell cycle progression from G1 to S phase (checks for DNA mutations –> if there are, causes repair or promotes apoptosis)
how many copies of p53 must be knocked out for tumor formation
both (knudson’s 2 hit hypothesis)
syndrome caused by inherited mutation of p53
Li-Fraumeni syndrome
normal function of Rb
regulates progression from G1 to S phase (holds on to E2F –> releases to go from G1 to S)
what normally phosphorylates Rb?
cyclin D/CDK4 complex
what transcription factor gets released when Rb is phosphorylated?
E2F
what happens where there is a mutation in Rb?
constitutively free E2F –> unregulated cell cycle progression to S phase
cancer associated with sporadic mutation of Rb
unilateral retinoblastoma
cancer associated with germline mutation of Rb
bilateral retinoblastoma, osteosarcoma
how many copies of Rb must be knocked out for tumor formation
both (Knudson’s two hit hypothesis)
normal function of bcl2
stabilizes mitochondrial membrane, prevent release of cytochrome c (which would cause apoptosis)
cancer associated with overexpression of bcl2
follicular lymphoma
mechanism of follicular lymphoma
t(14;18) - translocation between bcl2 and IgH –> overexpression of bcl2 –> failure of apoptosis of B-cells in follicle of lymphnodes
enzyme that is usually upregulated in cancer to prevent senescence
telomerase
angiogenic growth factors commonly produced by cancers to promote angiogenesis
FGF, VEGF