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47 Cards in this Set
- Front
- Back
What are the functions of proto-oncogene protein products?
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Growth factors
Growth factor receptors Signal transducers Nuclear transcribers |
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Proto-oncogene of CML?
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ABL
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ABL function?
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Nonreceptor tyrosine kinase activity
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ABL mutation type?
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translocation t(9:22)
Philadelphia Chromosome |
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HER (ERBB2) proto-oncogene associated with what cancer?
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breast carcinogenesis
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HER (ERBB2) function?
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Receptor synthesis
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Which proto-oncogenes undergo amplification mutation?
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HER (ERBB2)
N-MYC |
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Burkitt's Lymphoma is associated with what proto-oncogene?
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C-MYC
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Translocation of Burkitt's Lymphoma?
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t(8;14)
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MYC proto-oncogenes code what gene product?
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Transcription factor
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L-MYC associaed with what cancer?
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Lung tumor
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N-MYC associated with what cancer?
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Neuroblastoma
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Which proto-oncogene involved in GTP signal transduction?
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RAS
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Which proto-oncogenes undergo point mutations?
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RAS
RET |
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Leukemia, lung, colon, and pancreatic cancer are all associated with which proto-oncogene?
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RAS
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Which proto-oncogene involved in endocrine tumors?
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RET
(MEN IIa/IIb syndromes) |
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Overexpression of SIS proto-oncogene associated with what cancers?
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Astrocytoma
Osteogenic sarcoma |
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What part of the cell cycle do tumor suppressor genes regulate?
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G1 to S phase
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What do mutations in TSGs cause?
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unregulated cell proliferation
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Which TSG is associated with familial polyposis (colorectal carcinoma)?
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APC
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What is the function of APC?
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Prevents nuclear transcription (degrades catenin, an activator of nuclear transcription)
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BRCA1/BRCA2 TSGs are associated with what carcinomas?
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Breast
Ovary Prostate |
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BRCA1/BRCA2 function?
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regulates DNA repair
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RB TSG associated with what cancers?
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Retinoblastoma
Osteogenic sarcoma Breast carcinoma |
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Which TSGs inhibit G1 to S phase?
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TB
TGF-B TP53 |
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TGF-B associated with what carcinomas?
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Pancreatic
Colorectal |
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In addition to inhibiting G1 to S, TP53 has what other function? What gene is activated?
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Repairs DNA, activates BAX gene (initiates apoptosis)
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Mutation of TP53 causing loss of its inhibition of G1 to S phase is associated with what carcinomas?
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Lung
Colon Breast |
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Mutation of TP53 causing loss of DNA repair function is associated with what syndrome?
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Li-Fraumeni syndrome
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Li-Fraumeni syndrome associated with what cancers?
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Breast carcinoma
Brain tumors Leukemia Sarcomas |
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Function of VHL and WT1 TSGs?
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Regulate nuclear transcription
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VHL associated with what syndrome?
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Von Hippel-Lindau syndrome
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What are the cancers associated with Von Hippel-Lindau syndrome?
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Cerebellar hemangioblastoma
Retinal angioma Renal cell carcinoma (BL) Pheochromocytoma (BL) |
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WT1 associated with what cancer?
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Wilm's tumor
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Melanoma is associated with what TSG?
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p16
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What TSGs are on chromosome 13q?
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Rb
BRCA2 |
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What TSGs are on chromosome 17?
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17q = BRCA1, NF1
17p = p53 |
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Need to damage only 1 allele in proto-oncogenes or TSGs?
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Proto-oncogenes
Must lose both TSG alleles for disease expression |
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Proto-oncogene mutations results in what type of defect to cause cancer?
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Gain of function
(TSGs are loss of function) |
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C-KIT proto-oncogene gene product?
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Cytokine receptor
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Mutation in C-KIT causes what cancer?
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Gastrointestinal stromal tumor (GIST)
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What family of genes form anti-apoptotic molecules?
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BCL2 family
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How do the anti-apoptotic proteins of BCL2 genes prevent apoptosis?
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Prevent cytochrome c from leaving mitochondria
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What is cytochrome c's action?
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In the cytosol, it activates caspases initiating apoptosis
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BCL2 gene mutations result in overexpression, preventing apoptosis and cause what cancer?
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B-cell follicular lymphoma
(due to prevention of apoptosis of B Lymphocytes) |
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What translocation is associated with B-cell follicular lymphoma?
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t(14;18)
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A defect in the gene encoding a nucleotide excision repair enzyme is associated with what?
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Xeroderma pigmentosum
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