deck_4870329 Flashcards
What is a Philadelphia chromosome?
Results in a fusion protein tyrosine kinase that drives CML
What percentage of most cancers are due to identifiable cancer susceptibility genes?
5-10% are genetic, heredited
Which BRCA gene is most commonly mutated in African Americans?
BRCA II (Jews- BRCA1)
What mutation would lead to GIST?
upregulation of c-kit which acts mainly via the RAS/RAF/MEK/ERK pathway can treat with Gleevecsymptoms: decreased appetite, early satiety, and need to expand his belt.
What is c-kit? Pathway?
transmembrane receptor that is activated by the ligand ScF (stem cell factor) acts through RAS/RAF/MEK/ERk and also produces AKT which helps dissociate APC from B-catenin so it can enter the nucleus
Fact about metastatic lung cancer.
In some patients pill produce better responses than intravenous drugs5 yr survival rate about 2%Once in the brain, it can be cured.Asians and Americans have a different disease
EGFR kinase mutation is common in which cancers?
lung cancer. Upregulated Activating mutations present in 5% smokers, 15% non smokers, and 50% never smokers with adenocarcinoma
Risk factors for EGFR mutations?
female, young, Asian, non-smoker
How could you treat EGFR mutation?
Erlotinib (Tarceva)
EML4-ALK fusion mutation causes what?
adenocarcinoma lung cancer present in about 5% of lung cancers
Risk factors for EML4-ALK mutation?
increased in never smokers, Asian, females
How would you treat a EML4-ALK mutation?
Crizotinib- 57% response- better than chemo
Describe the EGFR pathway.
Ligand (EGF, TGFa) bind to receptor, causing it dimerize and act via a JAK/STAT pathway to promote cell growth and proliferation mutated (from hereditary or smoking, etc.)= over-expressed=tumor risk
What drug can block ligand binding to EGFR?
Cetuximab (monoclonal antibody)
What drug can prevent autophosphorylation of JAK?
Geftinib