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10 Cards in this Set
- Front
- Back
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Set 21 Q: This proteins is the most commonly mutated oncogene found in human tumors, and normally functions as a mitogen-responsive GTPase
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Ras - mutations in this gene are found in 10-20% of all tumors, with greater frequency found in tumors of the colon, pancreas, and thyroid. Ras is usually active when bound to GTP; it can hydrolyze GTP to GDP, with subsequent inactivation. The most common mutations, codon 12 mutations, result in the loss of GTPase activity and constitutive ras activity.
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Set 21 Q: This disorder is closely associated with the translocation between chromosomes 9 and 22, with the expression of the fusion protein bcr-able
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Chronic Myelogenous Leukemia (CML) - this aberrant proliferation of immature white blood cells results form the increased growth-promoting activity of the tyrosine kinase bcr-able, which results from the translocation between chromosome 9 and 22, or the Philadelphia Chromosome
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Set 21 Q: This hereditary syndrome causing a defect in DNA repair results from an inability to repair ultraviolet (UV) light-induced pyrimidine dimers
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Xeroderma pigmentosum - this autosomal recessive disorder is characterized by a 2,000 fold increase in the development of skin cancer due to sun exposure
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Set 21 Q: This disorder results from a defect in normal cell cycle arrest following exposure to mutagenic ionizing RADIATION, with continuation of DNA synthesis and the accumulation of genetic mutations.
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Ataxia Telangiectasia - these patients are susceptible to the development of X-ray induced (due to radiologic procedures) lymphoid maldevelopment (immunodeficiency or lymphoid malignancy) as well as loss of purkinje cells in the cerebellum, with gait disturbances (ataxia) - Defect in DNA repair enzyme - See decrease in IgA (recurrent infections), no thymic shadow, hypoplastic ovaries, normal Calcium (which distinguishes it from DiGeorge syndrome)
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Set 21 Q: This disorder results from a defect in a GTPase-activating protein GAP, which is normally involved in catalyzing the hydrolysis of GTP by ras, thus shutting off the growth-promoting actions of ras.
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Neurofibromatosis (von Recklinghausen disease) - this autosomal dominant disorder, due to mutations in the NF-1 gene on chromosome 17, manifests with multiple neurofibromas, cafe-au-lait spots, Lisch nodules, and an increased risk of other tumors.
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Set 21 Q: This anticancer drug inhibits the cytoskeleton remodeling required to separate the sister chromatids that align at the equatorial plane of the cell during mitosis
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Paclitaxel (Taxol) - this drug is used in the treatment of many cancers, including breast cancer
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Set 21 Q: Over expression of this receptor tyrosine kinase leads to growth-promoting signals in the absence of ligand, resulting in breast cancer
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HER2/neu - this gene becomes amplified in some breast cells resulting in autophosphorylation of intracellular domains of the receptors and activation of subsequent signaling cascades. The monoclonal antibody herceptin (Traztuzumab) blocks receptor dimerization, thus preventing signaling, and is used in the treatment of some breast cancers. - bcr-able is also a mutation of a tyrosine kinase
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Set 21 Q: This orally active small molecule selectively inhibits signal transduction by epidermal growth factor (EGF) receptor
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Gefitinib (Iressa) - this drug is used in the treatment of non-small cell cancer of the lung; it is being actively explored for the treatment of other cancers.
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Set 21 Q: This orally active drug inhibits the tyrosine kinase activity of the p210 protein (the product of the bcr-able oncogene) in chronic myelogenous leukemia
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Imatinib (Gleevac) - this drug, developed on the basis of the concept of rational drug design, inhibits the potent tyrosine kinase p210, which is formed from the 9:22 translocation, or the philadelphia chromosome. - Is the treatment for CML
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Set 21 Q: Exposure to this carcinogen acts synergistically with Hepatitis B in the development of Hepatocellular Carcinoma
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Alfatoxin B1 - this substance is produced by molds that grow on desperately needed grains consumed by many starving people in underdeveloped nations
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