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47 Cards in this Set

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