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72 Cards in this Set

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  • Back
ERB2 (HER-2/NEU) receptor gene
Growth factor receptor that is amplified, resulting in too many receptors on the cell surface. Leads to breast and ovarian cancers
RET gene
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
K-RAS gene
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
WNT signaling pathway
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))
ABL gene translocation
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)
C-myc translocation
Burkitt's lymphoma. The C-myc gene from c-8 to c-14. Transcriptional activator
N-myc amplification
Neuroblastoma, Small-cell CA of lung. Amplification copied either within a large homegenously staining region (HSR) or in double minutes scattered throughout genome
RAR- PML translocation
C-17, C-15 causing RAR-PML gene causing granulocytes to end development prematurely. Results in acute pro0myelocytic leukemia. Treat with ATRA
Cyclin D1 translocation
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.
Cyclin D amplification
Breast and Esophageal cancers
Ig-heavy chain gene to Bcl-2 locus translocation
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.
APC (mutation)
prevents nuclear transciption. If both alles are mutated familial polyposis coli is likely. Can happen through somatic mutations or methylations
BRCA-1 (mutation)
plays a role in double-strand break repair. Recuits RAD51 to the break after ATM has discovered it, facilitating repair. Breast and ovarian cancers
BRCA-2 (mutation)
plays a role in double-strand break repair. Recuits RAD51 to the break after ATM has discovered it, facilitating repair. Ovarian cancers less severe
INK4a/AFR gene (mutation)
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.
Rb protein (mutation)
normally inhibits transition from G1 - S phase. Double hit to INK4a/AFR gene causes retinoblastoma or osteogenic sarcoma.
p53 protein (mutation)
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
HPV E6 and E7
inhibit p53 which can cause cervical cancer
VHL gene (mutation)
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.
PTEN
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
NF-1 protein
Helps to inactivate Ras. Neurofibromatosis-1 in mutation of gene. Cafe au lait macules, iris hamartomas, increased risk of fibrosarcomas,
NF-2 protein
binds to actin and CD44. Loss of the functional NF-2 gene causes Neurofibromatosis-2. bilateral vestibular schwannomas and hearing disturbances
P16/INK4a Hypermethylation
Melanoma, pancreatic cancer
BRCA1 Hypermethylation
breast cancer
VHL Hypermethylation
renal cell carcinoma
MLH1 Hypermethylation
colorectal cancer
MSH2, MLH1 Mismatch repair enzymes
Mismatch repair enzyme. Hereditary non-polyosis colon cancer can develop. right sided colorectal CA
Nucleotide Excision repair enzymes
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
The warburg effect
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
Polycyclic aromatic hydrocarbons
these come from combustion of tobacco and smoked meats/fish cause many types of cancer including lung and bladder cancer.
Aromatic amines and azo dyes
broken down by the p450 system, are associated hepatocellular CA and bladder cancers
B-naphthylamine
from aniline dyes and the rubber industry, linked to bladder cancer
Aflatoxin B
toxin from a fungus in damp corn, rice, and peanuts that causes p53 mutations in the liver
Nitrosamines
formed in the gastrointestinal tract of humans after eating preserved meats, cause stomach and colon cancer
Asbestos
Brochogenic carcinomas, mesothelioma, gastrointestinal cancers
Chromium and nickel
lung cancers
Arsenic
Skin cancers
Hep B and C virus
HBx proteins activates growth factors and bind to p53 cause chronic liver cell injury and regeneration as well
Epstein barr virus Antigen (EBVA)
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
HPV 16, 18, 31, 33
integrate their genome into cells and produce E6 and E7 which interact with p53 and Rb, respectively. This drives the production of cervical cancers.
Human T-cell Leukemia Virus Type 1
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
Helicobacter pylori
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.
Endocrinopathies
lung cancer cells can produce excess ACTH and cause Cushing syndrome-like symptoms
Hypontremia/SIADH
some small cell CA of the lung produces ADH
Acanthosis nigricans
causes hyperpigmentation of the skin due to buildup of keratin layers - often occurs in skin folds - occurs often in GI malignancies
Carcinoid syndrome
Associated with Carcinoid tumors of the appendix or small intestine which produce serotonin -
Hypercalcemia
Malignant tumors account for 40% of all cases hypercalcemia because PTH-related peptide is released by squamous cell CA of the lung.
Hypocalcemia
Increased cacitonin due to medullary CA of the thyroid
Gynecomastia
due to excess production of human chorionic gonadotropin from choriocarcinoma of the TESTIS
Eaton Lambert syndrome
A myasthenia gravis - like syndrome caused by small cell CA of the lung
Clubbing
associtated with lung cancers
Thrombotic diathesis
Superficial migratory thrombophlebitis, vegetations on heart valves, or DIC
Flow cytometry
Measures the DNA content of cells and determines aneuploidy
DNA Probe Analysis
Fish can be used to detect oncogenes, bcr-abl fusion gene products, karyotype, and carry out DNA micro-array analysis
IHC (immunohistochemical techniques)
Use of antibodies to a range of antigens that are typical of particular tumor types
EMA (epithelial membrane antigen)
epithelial tumor origin
Vimentin or desmin
menenchymal tumor origin
Leukocyte common antigen
Leukocyte tumor origin
Thyroglobulin antigen
Thyroglobulin tumor origin
CD10 (CALLA) antigen
acute lymphoblastic leukemia tumor origin
Placental alkaline phosphatase
seminoma tumor origin
vWF, CD31
vascular neoplasms tumor origin
Neuron-specific enolase
neural tumor origin
CEA (carcinoembryonic antigen)
elevated in colon, pancreas, stomach, and breast cancers
PSA (prostate-specific antigen)
elevated in prostate cancer
B-HCG (human chorionic gonadotropin)
elevated in trophoblastic tumors
CA-125
elevated in ovarian CA
AFP (a-fetoprotein)
elevated in hepatocellular CA and germ cell tumors of testes and ovary
NSE
small cell CA of the lung
Calcitonin
Medullary thyroid CA
CA 19-9
colon cancer, pancreatic cancer
CA 15-3
breast cancer