Term
PDGFB (platelet Derived Growth Factor- Beta) |
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Definition
Growth factor. Mutation leads to astrocytoma, osteosarcoma |
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Fibroblast growth factor. Mutation leads to breast cancer, melanoma, and stomach cancer |
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Transforming growth factor- alpha. Upregulated in astrocytoma and hepatocellular carcinoma |
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EGF and TGF-alpha receptor. Mutation and over-expression can lead to glioblastoma |
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Growth factor receptor. Mutation leads to MEN2 syndrome |
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Tyrosine kinase growth factor receptor, involved in cell proliferation. Over expression leads to breast and ovarian cancer. Treat with Traztusumab (Herceptin, a human mAb). |
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Growth factor receptor for stem-cell factor |
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GTPase important for signal transduction, especial to Raf and Pi3-K. |
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Non-receptor Tyrosine Kinase, involved in signal transduction. Mutated in t(9:22) resulting in Philadelphia chromosome (CML) |
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Wnt signal transducer, related to cadherin adhesion proteins |
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Nuclear regulator protein. Deregulated in many cancers. Involved in t(8:14) of Burkitt's Lymphoma |
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Nuclear regulatory protein. Mutation involved in neuroblastoma, small cell carcinoma |
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Nuclear Regulatory Protein |
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Cell cycle regulator (controls progression through cell cycle) and dysregulated in cancer. |
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Important for cell cycle G1 phase progression. Forms Cyclin D-CDK4 complex to phosphorylate Rb, and free E2F for transcription |
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Cell cycle regulator- negatively regulates P53 by marking it for ubiquination |
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VEGF (vascular endothelial growth factor) |
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Definition
Promotes angiogenesis and leakiness of vasculature |
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HIF-1 (hypoxia inducible factor) |
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Definition
Promotes angiogenesis by inducing VEGF transcription |
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Anti-angiogenic and involved in cell adhesion |
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Anti-growth factor. May induce apoptosis. Regulates cell cycle and signals via SMAD pathway |
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Tumor suppressor gene. Loss leads to invasion and metastasis |
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Tumor suppressor gene, inhibits RAS and CDKi-p21. Loss leads to neurofibromatosis |
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Tumor suppressor gene. Loss leads to acoustic schwanoma |
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Tumor suppressor gene. Loss leads to HNPCC and colon cancer |
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Tumor suppressor gene that modulates TGF-beta signals. Acts as a transcription factor. |
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RB1 (retinoblastoma- Ch. 13) |
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Definition
Tumor suppressor gene. Inhibits cell cycle at G1 by binding transcription factor E2F (when hypomethylated). Methylated by Cyclin D-CDK4 complex, also disabled by HPV protein E6. |
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Tumor suppressor gene. Phosphatase that regulates the cell cycle. |
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Tumor suppressor gene, regulates cell cycle, does DNA repair, and can signal apoptosis. Loss leads to Li Fraumeni syndrome (multiple cancers). |
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Tumor suppressor gene. Wilm's Tumor |
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Tumor suppressor genes involved in DNA repair (mismatch synthesis). Account for 3-5% of breast cancers |
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Tumor suppressor, does gene repair. Loss leads to HNPCC |
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Pro-apoptotic, induced by P53 |
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Proteins that execute apoptosis. Usually in mitochondria. |
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Anti-apoptotic. t(14:18) mutation leads to follicular lymphoma (cells won't die) |
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DNA repair gene, loss leads to Ataxia Telangectasia |
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Growth factor receptor, important for lymphocyte development |
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HGF (hepatocyte growth factor) |
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Definition
Growth factor for embryogenesis, wound repair, hematopoiesis |
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FGF-3 (fibroblast growth factor) |
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Definition
Growth factor, involved in angiogenesis and wound healing |
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Definition
Condition due to a defect in nucleotide excision repair. UV light creates thymidine dimers in DNA |
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HNPCC (hereditary nonpolyposis colorectal cancer) |
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Definition
Due to a defect in mismatch repair. 80% lifetime risk of colorectal cancer. Most common cancer predisposition syndrome |
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Due to a mutation in the ATM gene (which senses dsDNA breaks) |
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Causes developmental defects. Due to mutation in BLM helicase involved in homologous recombination- short stature, rash develops after sun exposure, distinct facial features |
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Due to mutation of several genes involved in DNA break repair, including BRCA2 |
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Due to mutated P53 (only takes loss of one allele). Results in many different types of cancer. Autosomal dominant |
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