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9 Cards in this Set
- Front
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VHL stands for
What is pVHL? What is HIF-1 In normoxia... In hypoxia What genes does it induce? What effects does this have? |
Von Hippel Lindau
E3-Ligase Hypoxic-inducible factor -1 (HIF1α HIF-1β) pHDL binds to HIF1α via -OH groups on proline and causes its degradation within 10 mins. HIF1α dimerises with HIF-1β and becomes an active TF VEGF, EPO, PDGF angiogenesis and erythropoiesis |
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Mutations in APC most often are:
The general effects are: What epigentic effect also inactivates APC? You can inherit APC or acquire it sporadically, an aggressive form has an additional mutation in...? |
5 base deletions
chr. instability, inappropriate segregation of chr. in mitosis and aneuploidy Hypermethylation K-Ras |
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There are over * mutations in APC
The chances of developing colon cancer? In normal gut how do cells behave? How long do colon cells live? What 3 pro-growth genes does β-catenin promote? If APC is mutated/loss of function... How does APC mediate chr. instability? |
>800
100% by age 40 y/o Crypts - stem cells at base - high Wnt signalling - β-catenin - cells migrate up - less wnt- APC recruits GSK3 - β-catenin phos -Ub degradation 4days survin, cyclinD and c-myc cells retain stem cell like properties and proliferate into a polyp. APC attaches spindle to microtubules, localises at the kinetochore. |
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Chromosome of RB
RB represses which transition? If a null mutation is sporadic it effects If the RB mutation is hereditary Hereditary RB can be treated but there is a risk of... |
Chr. 13
Go-1 one eye/ unilateral both eyes/bilateral cancer returning in osteosarcomas |
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BRCA protein characteristics/history
General goal of BRCA proteins BRCA1/2 bind to what and via what domain? |
large proteins with little homology to other proteins/each other, late comers to evolution
Aim to preserve chr. structure prevent transl/del/inv/fusions. BRCA1 -RAD50 BRCA2-RAD51 Via 40 aa BRC repeat |
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BRCA may inhibit which receptor?
Missense mutations lead to BRCA1/2 mice...? Cells lacking BRCA1 |
Oestrogen R (ER)
Loss-of-function BRCA1 -/- die at embryo BRCA2 -/- lymphoid/chr. abnormalities Can be killed easily with X-rays |
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BRCA are caretaker or gatekeepers?
What DNA do they promote What phase does this occur? What does RAD51 do? Patients that lack HDR have? Use instead? NHEJ is required in |
Caretakers
Homologous recombination S-G2 Binds to ss-DNA and unwinds it Nijmegen break syndrome Non-homologous end joining immune system, class switching and antibody generation |
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DNA damage can signal to BRCA by
Which kinases How are they activated BRCA2 participates in metaphase, how? |
phosphorylation
ATM, ATR, Chk1, Chk2 Ionising radiation = ATM, CHk1/2 UV radiation = ATR Colocalises with B-Raf35 at condensing chromosomes |
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An increased risk of breast cancer is associated with...
What locus is the highest risk Patients with p53 mutation often have far more aggressive/metastatic cancer because... what kinases activate p53 How does E2F stabilise p53 |
ATM methylation at CpG islands (promoters) and CpG shores.
ATMmup2A 6.3% methylated gives 1.9 fold risk p53 promotes homologous recombination ATM, Chk1, Chk2 phosphorylate p53 and prevent MDM2 binding Transcribes p19ARF which sequesters MDM2 |
