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72 Cards in this Set
- Front
- Back
ERB2 (HER-2/NEU) receptor gene
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Growth factor receptor that is amplified, resulting in too many receptors on the cell surface. Leads to breast and ovarian cancers
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RET gene
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encodes a receptor for neurotrophic factor, altered by a point mutation that causes Multiple Endocrine Neoplasia (MEN 2a and 2b). Also encodes for Familial MTC presenting as medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism
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K-RAS gene
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GTP binding family. Can undergo a point mutation that leads to pancreas, colon, and lung cancers. If point mutation is successful RAS protein will stay "on" all the time
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WNT signaling pathway
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APC is mutated it is unable to breakdown B-catenin released from membrane complexes, so B-catenin level in the cell increase and signals the nucleus to be active. causes (non-familial colorectal carcinoma (FAP))
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ABL gene translocation
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Philadelphia chromosome translocation from c-9 to c-22. the c-abl proto-oncogene is xfred. Leads to chronic myeloid leukemia or acute lymphoblastic leukemia. Treat with Gleevec (inhibits tyrosine kinase)
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C-myc translocation
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Burkitt's lymphoma. The C-myc gene from c-8 to c-14. Transcriptional activator
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N-myc amplification
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Neuroblastoma, Small-cell CA of lung. Amplification copied either within a large homegenously staining region (HSR) or in double minutes scattered throughout genome
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RAR- PML translocation
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C-17, C-15 causing RAR-PML gene causing granulocytes to end development prematurely. Results in acute pro0myelocytic leukemia. Treat with ATRA
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Cyclin D1 translocation
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C- 11 and Ig-heavy chain gene on C-14. results in increased cyclin D1 production, which increases movement from G to S phase. Mantel cell lymphoma.
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Cyclin D amplification
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Breast and Esophageal cancers
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Ig-heavy chain gene to Bcl-2 locus translocation
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C-14 to C-18. Enhanced expression of BCL-2 (inhibiting apoptosis). Gollicular lymphoma, B cells in follicles don't apoptose like they are supposed to.
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APC (mutation)
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prevents nuclear transciption. If both alles are mutated familial polyposis coli is likely. Can happen through somatic mutations or methylations
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BRCA-1 (mutation)
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plays a role in double-strand break repair. Recuits RAD51 to the break after ATM has discovered it, facilitating repair. Breast and ovarian cancers
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BRCA-2 (mutation)
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plays a role in double-strand break repair. Recuits RAD51 to the break after ATM has discovered it, facilitating repair. Ovarian cancers less severe
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INK4a/AFR gene (mutation)
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Encodes tumor suppressor proteins Rb and p53. Mutation causes lost capacity to block cyclin D-CDK4 activity and lost capacity to prevent Rb prosphorylation during cell cycle.
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Rb protein (mutation)
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normally inhibits transition from G1 - S phase. Double hit to INK4a/AFR gene causes retinoblastoma or osteogenic sarcoma.
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p53 protein (mutation)
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normally inhibits transition from G1 - S phase in the presence of DNA damage. Activates p21 which inhibits cyclin and CDK4. Can activate BAX apoptotic pathway. Li-Fraumeni syndrome in mutations
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HPV E6 and E7
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inhibit p53 which can cause cervical cancer
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VHL gene (mutation)
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located on C-3 part of ubiquitin ligase complex. Regulates nuclear transcription via HIF-1a. Mutations cause hereditary renal cell CA, Pheochromocytomas, Hemangioblastomas of CNS, Retinal angiomas, and retinal cysts.
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PTEN
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increases transcription of p27, which is a Kip cell cycle inhibitor. If lost, endometrial CA is likely. (35-50% type I endometrioid CA) p53( 90%) of Type II non-endometrioid CA
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NF-1 protein
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Helps to inactivate Ras. Neurofibromatosis-1 in mutation of gene. Cafe au lait macules, iris hamartomas, increased risk of fibrosarcomas,
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NF-2 protein
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binds to actin and CD44. Loss of the functional NF-2 gene causes Neurofibromatosis-2. bilateral vestibular schwannomas and hearing disturbances
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P16/INK4a Hypermethylation
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Melanoma, pancreatic cancer
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BRCA1 Hypermethylation
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breast cancer
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VHL Hypermethylation
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renal cell carcinoma
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MLH1 Hypermethylation
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colorectal cancer
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MSH2, MLH1 Mismatch repair enzymes
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Mismatch repair enzyme. Hereditary non-polyosis colon cancer can develop. right sided colorectal CA
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Nucleotide Excision repair enzymes
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Defect in genes encoding enzymes that repair DNA after UV light damages skin cells causes XERODERMA PIGMENTOSUM. basal cell CA, squamous cell CA, malignant melanomas developing after any sun exposure
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The warburg effect
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even in the presence of ample O2 cancer cells shift their glucose metabolism away from O2 hungry but efficient, mitochondria to glycolysis. Detected by PET scan, most tumors are PET positive
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Polycyclic aromatic hydrocarbons
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these come from combustion of tobacco and smoked meats/fish cause many types of cancer including lung and bladder cancer.
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Aromatic amines and azo dyes
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broken down by the p450 system, are associated hepatocellular CA and bladder cancers
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B-naphthylamine
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from aniline dyes and the rubber industry, linked to bladder cancer
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Aflatoxin B
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toxin from a fungus in damp corn, rice, and peanuts that causes p53 mutations in the liver
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Nitrosamines
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formed in the gastrointestinal tract of humans after eating preserved meats, cause stomach and colon cancer
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Asbestos
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Brochogenic carcinomas, mesothelioma, gastrointestinal cancers
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Chromium and nickel
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lung cancers
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Arsenic
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Skin cancers
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Hep B and C virus
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HBx proteins activates growth factors and bind to p53 cause chronic liver cell injury and regeneration as well
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Epstein barr virus Antigen (EBVA)
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Burkitts lymphoma, Hodgkin lymphoma, B-cell lymphoma, and nasopharyngeal CA. EBNA activates cyclin D, which promotes resting B-cells to move from into growth phase. EBNA also activates transcription of LMP1, which mimics CD40 and activates other proteins that increase odds of developing c-myc mutations
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HPV 16, 18, 31, 33
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integrate their genome into cells and produce E6 and E7 which interact with p53 and Rb, respectively. This drives the production of cervical cancers.
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Human T-cell Leukemia Virus Type 1
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virus is endemic in parts of Japan and the caribbean. It is transmitted via sexual intercourse, blood, and breast feeding. Affects Tax gene, which stimulates transcription of viral mRNA. This activates c-Fos, IL-2 GM-CSF, and inactivates p16INK4a. Cells move from G1 to S
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Helicobacter pylori
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Causes gastritis in the stomach, which can cause chronic gastritis that can eventually lead to gastric lymphomas and gastric CA. CagA distrupts cell junctions and induces inflammation. VacA is produced as well, which induces apoptosis in cells, disrupts cell pathways, induces inflammation, and allows H. pylori to live within macrophages. Gastric adenoCA.
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Endocrinopathies
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lung cancer cells can produce excess ACTH and cause Cushing syndrome-like symptoms
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Hypontremia/SIADH
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some small cell CA of the lung produces ADH
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Acanthosis nigricans
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causes hyperpigmentation of the skin due to buildup of keratin layers - often occurs in skin folds - occurs often in GI malignancies
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Carcinoid syndrome
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Associated with Carcinoid tumors of the appendix or small intestine which produce serotonin -
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Hypercalcemia
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Malignant tumors account for 40% of all cases hypercalcemia because PTH-related peptide is released by squamous cell CA of the lung.
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Hypocalcemia
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Increased cacitonin due to medullary CA of the thyroid
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Gynecomastia
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due to excess production of human chorionic gonadotropin from choriocarcinoma of the TESTIS
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Eaton Lambert syndrome
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A myasthenia gravis - like syndrome caused by small cell CA of the lung
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Clubbing
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associtated with lung cancers
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Thrombotic diathesis
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Superficial migratory thrombophlebitis, vegetations on heart valves, or DIC
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Flow cytometry
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Measures the DNA content of cells and determines aneuploidy
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DNA Probe Analysis
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Fish can be used to detect oncogenes, bcr-abl fusion gene products, karyotype, and carry out DNA micro-array analysis
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IHC (immunohistochemical techniques)
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Use of antibodies to a range of antigens that are typical of particular tumor types
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EMA (epithelial membrane antigen)
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epithelial tumor origin
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Vimentin or desmin
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menenchymal tumor origin
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Leukocyte common antigen
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Leukocyte tumor origin
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Thyroglobulin antigen
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Thyroglobulin tumor origin
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CD10 (CALLA) antigen
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acute lymphoblastic leukemia tumor origin
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Placental alkaline phosphatase
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seminoma tumor origin
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vWF, CD31
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vascular neoplasms tumor origin
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Neuron-specific enolase
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neural tumor origin
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CEA (carcinoembryonic antigen)
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elevated in colon, pancreas, stomach, and breast cancers
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PSA (prostate-specific antigen)
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elevated in prostate cancer
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B-HCG (human chorionic gonadotropin)
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elevated in trophoblastic tumors
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CA-125
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elevated in ovarian CA
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AFP (a-fetoprotein)
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elevated in hepatocellular CA and germ cell tumors of testes and ovary
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NSE
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small cell CA of the lung
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Calcitonin
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Medullary thyroid CA
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CA 19-9
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colon cancer, pancreatic cancer
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CA 15-3
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breast cancer
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