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Summary: Tumorbio-9
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1 Tumorbio-9
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What is Cowden disease?
rare condition defined by multiple hamartomatous growths and a guarded prognosis owing to the high risk of cancer development -
How does Cowden disease work?
autosomal dominant with incomplete penetrance and variable expressivity -
What is the function of PTEN?
PIP3 --> PIP2 -> no phosphorylation of AKT/PKB -
What is the function of GSK-3B?
block proliferation -
What is the function of HIF-1A?
stimulation angiogenesis -
What is the function of AKT?
negative regulator of molecules that inhibit cell growth and survival -
What happend if you inactivate PTEN?
by methylation or miRNA silencing in tumors, you can get PHTS cancers and stimulation PI3'K pathway -> PIP3 rising -> overexpression AKT -
What is the function of TP53?
transcription factor "The Guardian" -
What happends if TP53 is mutated?
deletion in exon 5-8 -> DBD -
What SMAD is responsible for LOH?
SMAD4
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