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2020 MHS Genetics Unit2 > cancer > Flashcards

cancer Flashcards

1
Q

a tissue with abnormally high cell number (neoplasm)

A

tumor

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2
Q

a malignant tumor that invades other tissues (metastasizes)

A

cancer

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3
Q

describe the phases of cell cycle

A

1 -cell growth

s-DNA replication

2-rapid cell growth

m-separation of sister chromatids, cytokenesis

0-differentiated, senescent

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4
Q

describe the important sites of quality control in the cell cycle (excluding cyclin)

A
  1. restriction point
    1. G1
    2. arrests cyclce if no extracellular growth signal is present
  2. DNA damage checkpoints
    1. G1,SG2
    2. arrests cyclce if DNA damage is detected, initates repair
  3. DNA replication checkpoint
    1. S
    2. Arrests cycle if the replication fork is stalled, initiates repair
  4. metaphase checkpoint
    1. arrests cycle until all chromosomes** correctly **attach to the mitotic spindle
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5
Q

what are the signals that keep the cells in G0?

A
  1. TGF-B
    1. induces differentiation of cells
  2. contact inhibition
    1. cell-cell interactions through cadherin receptors
  3. telomere shorteninig
    1. cell senescene to avoid loss of genetic material
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6
Q

a cell is unable to repair the stalled replication fork what can be assumed about this cell?

A

The cell is stuck or DNA break in the S phase

  • p53(TF) increases->
    • increases p21(CKI)->arrests cell cycle
    • GADD45(DNA repair enzyme)
  • not repaired?
    • apoptosis initiated
      • IGF-BP3
        • inhibits apoptotic signal
      • Bax
        • activates apoptosis

cyclin DEAB

  1. function
    1. proteins regulated by transcription and proteolytic degradation (ubuiquitin)
    2. activate specific cyclin dependent kinases
      1. phosphorylate target proteins
      2. promote cell cycle progression
  2. regulation
    1. inducible
      1. cyclin
      2. Cycin dependent kinase inhibitor (CDKI)- binds to the cyclin-CDK complex
        1. additional other kinases* and *proteasomal degradative regulators are availabe
    2. constitutive
      1. cyclin dependent kinases (CDK)
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7
Q

phosphorylate target proteins and promote cell cycle progression

A

cyclin DEAB

  1. function
    1. proteins regulated by transcription and proteolytic degradation (ubuiquitin)
    2. activate specific cyclin dependent kinases
      1. phosphorylate target proteins
      2. promote cell cycle progression
  2. regulation
    1. inducible
      1. cyclin
      2. Cycin dependent kinase inhibitor (CDKI)- binds to the cyclin-CDK complex
        1. D-CKI binds to D-CDK, inhibiting the phosphorylation of Rb. Rb can dephosphorylate or be destroyed and replaced->reassociating with E2F ->E2F-Rb, stops the progress from G1->S
        2. additional other kinases* and *proteasomal degradative regulators are availabe
    2. constitutive
      1. cyclin dependent kinases (CDK)
        1. growth factor stimulates Ras-Mek pathway activating D-CDK phosphorylates Rb, on the E2F-Rb complex. Rb releases E2F is a transcription factor that leads to integral genes for cell cycle progression to continue.
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8
Q

describe the cyclins and their involvment in the cell cycle

A
  1. function
    1. proteins regulated by transcription and proteolytic degradation (ubuiquitin)
    2. activate specific cyclin dependent kinases
      1. phosphorylate target proteins
      2. promote cell cycle progression
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9
Q

Describe how the extracellular signals lead to the generation of cyclin proteins

A

growth factors are critical to cell growth and diversity

  1. mitogens
    1. growth factors->receptor Y-kinase-> Ras->
  2. mitogen acivated kinase cascades (MAPkinase cascades)
    1. cRaf->MEK->Erk1/2
  3. other kinases and transcription factors
    1. p90rsk, cyclinD, etc
    2. growth
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10
Q

Ras has decreased in stimulation, what is required to activate this pathway? What important MAPkinase cascade does Ras acivate?

A

growth factors are critical to cell growth and diversity

  1. mitogens
    1. growth factors->receptor Y-kinase-> Ras->
  2. mitogen acivated kinase cascades (MAPkinase cascades)
    1. cRaf->MEK->Erk1/2
  3. other kinases and transcription factors
    1. p90rsk, cyclinD, etc
    2. growth
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11
Q

Cells require cyclin to move through the restriction points and to progress to the different cell cycles. What do extracellular signals promote during this process?

A

growth factors are critical to cell growth and diversity

  1. mitogens
    1. growth factors->receptor Y-kinase-> Ras->
  2. mitogen acivated kinase cascades (MAPkinase cascades)
    1. cRaf->MEK->Erk1/2
  3. other kinases and transcription factors
    1. p90rsk, cyclinD, etc
    2. growth
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12
Q

describe the parameters that must be met in to commit to moving from the G1 phase in cell cycle replication. Think of the items that occur in G1, a cellmoving out of scensence

A
  1. Adequate cell growth
    1. must preced DNA replication in S
  2. Restriction point
    1. G1/S transition is controlled by the restriction point
  3. sufficient cylcin D
    1. the transition point can only be passed if sufficient cyclin D is present
    2. cell growth will cause gradual increase in cycling D levels

debatable- decrease in the factors keepin the cell in G0=TGF-B

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13
Q

the gate keeper of the restriction point

A

Retinoblastoma protein (Rb) is the gatekeeper of the restriction point

  1. phosphorylation by D-CDK complexes inactivates Rb, and allows E2F trasncription factor to initiate cell cycle progression
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14
Q

E2F-Rb never dissociates. What did not happen in

A

any of the following may have happend

  1. Growth factor did not stimulate the cell
    1. any where during this pathway may have been hindered
  2. Ras/Raf signal pathway did not induce synthesis of Cyclin D
  3. CyclinD was not transcribed with high enough concentrations
  4. CKI bound to E2F, may piggy back on #3

Retinoblastoma protein (Rb) is the gatekeeper of the restriction point

  1. phosphorylation by D-CDK complexes inactivates Rb, and allows E2F trasncription factor to initiate cell cycle progression
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15
Q

A DNA strand breaks or the suffers from a replication fork stall. What is the most likely of spots for this to happen and how is it handeled?

A

Ensure genomic integrity during interphase

  1. if DNA is damaged, cell cycle is halted and repair is initiated
  2. if repari is unsuccesful, apoptosis is initiated

certtain checkpoints are in place for detection of such events

  1. DNA damage checkpoints
    1. G1,S,G2
    2. arrests cycle if DNA damage is detected, initate repairs
  2. DNA replication checkpoint
    1. S
    2. arrests cycle if the replication fork is stalled, initiates repairs
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16
Q

what is the main transducer leading to cell cycle arrest. Explain

A

Ensure genomic integrity during interphase

  1. if DNA is damaged, cell cycle is halted and repair is initiated
  2. if repari is unsuccesful, apoptosis is initiated
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17
Q

what is the purpose of DNA damage/checkpoints?

A

Ensure genomic integrity during interphase

  1. if DNA is damaged, cell cycle is halted and repair is initiated
    1. P53(TF)increases->
      1. p21
        1. is a CKI
      2. GADD45
        1. Repair DNA damage
  2. if repair is unsuccesful, apoptosis is initiated
    1. IGF-BP3
      1. inhibits anti-apoptotic signals
    2. Bax
      1. activates apoptosis
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18
Q

UV damage has caused DNA damage. when will the cell have a chance to become aware of this and how will it respond?

A

Ensure genomic integrity during interphase

  1. stages of potential cognizants
    1. G1,S,G2
  2. if DNA is damaged, cell cycle is halted and repair is initiated
    1. P53(TF)increases->
      1. p21
        1. is a CKI
      2. GADD45
        1. Repair DNA damage
  3. if repair is unsuccesful, apoptosis is initiated
    1. IGF-BP3
      1. inhibits anti-apoptotic signals
    2. Bax
      1. activates apoptosis
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19
Q

A cell undergoes replication fork stall. When will the cell have the oppotunity to gain aware of this?

A
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20
Q

A cell undergoes DNA damage. When will the cell have the oppotunity to gain aware of this?

A
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21
Q

describe the proteins that are activated and how leading to cell death?

A

caspases are cysteine proteases

  • proenzymes acivated by protelytic cleavage
    • initators (8,9,10)
      • activated directly by the death cell receptor and mitochondrial pathway
    • execution(3,6,7)
      • activated by initiator caspases
      • cleave many different proteins in the cell
        • actin
        • proteins of the nuclear envelope
        • DNA repair enzymes (GADD45)
        • inhibitors of caspase dependent endonucleases
  1. normal physiological process
    1. embryogenesis
    2. maintenance of proper cell number
    3. removal of injured cells
  2. inition pahways
    1. Both pathways eventually will activate the caspase cascade (prenzymes activated by either method) intracellularly
      1. death receptor
      2. mitochondrial
  3. outcome
    1. caspase cascade leads to
      1. chromatic condensation
      2. DNA fragmentation
      3. cell shrinkage
      4. cell fragmentation
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22
Q

GADD45 is unable to complete its job, what is the cell going to do next?

A

He is going to get chopped up by the execution caspases (3,6,7)

  1. normal physiological process
    1. embryogenesis
    2. maintenance of proper cell number
    3. removal of injured cells
  2. inition pahways
    1. Both pathways eventually will activate the caspase cascade (prenzymes activated by either method) intracellularly
      1. death receptor
      2. mitochondrial
  3. outcome
    1. caspase cascade leads to
      1. chromatic condensation
      2. DNA fragmentation
      3. cell shrinkage
      4. cell fragmentation
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23
Q

what is the purpose of apoptosis

A
  1. normal physiological process
    1. embryogenesis
    2. maintenance of proper cell number
    3. removal of injured cells
  2. inition pahways
    1. Both pathways eventually will activate the caspase cascade (prenzymes activated by either method) intracellularly
      1. death receptor
      2. mitochondrial
  3. outcome
    1. caspase cascade leads to
      1. chromatic condensation
      2. DNA fragmentation
      3. cell shrinkage
      4. cell fragmentation
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24
Q

A CT-cell tells a cancerous cell to die. What is the pathway?

A

death receptor of apoptosis

  1. initiator caspases are activated
    1. 8,9,10
  2. Execution caspase are activate
    1. 3,6,7
      1. activate Bid
        1. stimulates the mitochondrial pathway
      2. chromatin condensation
      3. DNA fragmentation
      4. cell shrinkage
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25
Bax is generated but relies on what else to be operational?
1. DNA damage repair was unsuccesful 1. IGF-BP3 1. anti-apoptotic signal 2. ***_Bax_*** 1. ***_CDKI_*** 2. Bax will supress the CDK and there will be a decline in cyclin. Stopping the cell growth 3. death signal is sent to the mitochondria and the causes the release of cyt-c 4. cyt-c binds to tapoptotic pretease activating factor-1 (***_Apaf-1)_*** 5. Apaf-1 -cyt-C complex activates the initiation caspase-9 6. Caspase 9 activates exectution caspases - 3,6,7 1. Bid activation 1. ***_Bid binds to Bax and BidBax complex generates a channel in the mitochondrial membrane_*** 2. chromatin condensation 3. DNA fragmentation 4. cell shrinkage
26
The constant expression of IGF-BP3 and Bax leads has what outcome?
1. DNA damage repair was unsuccesful 1. IGF-BP3 1. anti-apoptotic signal 2. Bax 1. CDKI 2. Bax will supress the CDK and there will be a decline in cyclin. Stopping the cell growth 3. death signal is sent to the mitochondria and the causes the release of cyt-c 4. cyt-c binds to tapoptotic pretease activating factor-1 (***_Apaf-1)_*** 5. Apaf-1 -cyt-C complex activates the initiation caspase-9 6. Caspase 9 activates exectution caspases - 3,6,7 1. Bid activation 1. ***_Bid binds to Bax and BidBax complex generates a channel in the mitochondrial membrane_*** 2. chromatin condensation 3. DNA fragmentation 4. cell shrinkage
27
The body begins to decrease the growth factor att certain ages, what happens to some cells as this decline is complete?
apoptosis depends on the ratio of pro- anti-apoptotic molecules. A decrease in the growth factors leads to and increase in Bid. Bid must compete with Bcl-2 to find Bax. 1. pro-apoptotic 1. Bax 1. form channels in the outer mitochondrial membran to release Cyt-C, butt function depends on binding of Bh3-only members (Bid) 2. Bid 1. regulare tthe activity of the channel forming pro-apoptotic factors 2. anti-apoptotic 1. Bcl-2 1. sequesters BH3-only members away from the channel forming pro-apoptotic factos 2. can bind and inativate Apaf-1
28
list the important pro-/anti- apoptotic factors and their operation
1. pro-apoptotic 1. Bax 1. form channels in the outer mitochondrial membran to release Cyt-C, butt function depends on binding of Bh3-only members (Bid) 2. Bid 1. regulare tthe activity of the channel forming pro-apoptotic factors 2. anti-apoptotic 1. Bcl-2 1. sequesters BH3-only members away from the channel forming pro-apoptotic factos 2. can bind and inativate Apaf-1
29
Smoking increases exposure of what chemicals? how does this affect the cell?
carcinogens and radiation cause DNA modification 1. smoking increases polycyclic hydrocarbon exposure, which turns in to epoxides and alters DNA. An alteration in the DNA may lead to lung cancer look at the sequential order benign-\>malignant
30
describe the formation of cancer
look at the sequential order benign-\>malignant
31
# define the following for proto-oncogenes and tumor-supressors 1. normal function in cell groth and proliferation 2. normal function in cell death 3. normal function in cell number regulation 4. genetic changes in tumor formation 5. alleles mutated in tumors
1. normal function in cell groth and proliferation 1. PO 1. induce cell growth or proliferation 2. TS 1. inhibit cell growth or proliferation 2. normal function in cell death 1. PO 1. inhibit cell death anti-apoptotic 2. TS 1. induce cell death (pro)-apoptotic 3. normal function in cell number regulation 1. PO 1. increase cell number 2. TS 1. decrease cell number 4. genetic changes in tumor formation 1. PO 1. gain of function mutations (OVERACTIVATION) 2. TS 1. loss of function mutations (INACTIVATION) 5. alleles mutated in tumors 1. PO 1. generally one allele is overactivates 2. TS 1. both alleles must be inactivated
32
define the normal function of protoncogens and tumor suppresors in cell growth and proliferation
1. normal function in cell groth and proliferation 1. PO 1. induce cell growth or proliferation 2. TS 1. inhibit cell growth or proliferation 2. normal function in cell death 1. PO 1. inhibit cell death anti-apoptotic 2. TS 1. induce cell death (pro)-apoptotic 3. normal function in cell number regulation 1. PO 1. increase cell number 2. TS 1. decrease cell number 4. genetic changes in tumor formation 1. PO 1. gain of function mutations (OVERACTIVATION) 2. TS 1. loss of function mutations (INACTIVATION) 5. alleles mutated in tumors 1. PO 1. generally one allele is overactivates 2. TS 1. both alleles must be inactivated
33
describe the normal function of proto oncogens and tumor suppressors in cell death
1. normal function in cell groth and proliferation 1. PO 1. induce cell growth or proliferation 2. TS 1. inhibit cell growth or proliferation 2. ***_normal function in cell death_*** 1. ***_PO_*** 1. ***_inhibit cell death anti-apoptotic_*** 2. ***_TS_*** 1. ***_induce cell death (pro)-apoptotic_*** 3. normal function in cell number regulation 1. PO 1. increase cell number 2. TS 1. decrease cell number 4. genetic changes in tumor formation 1. PO 1. gain of function mutations (OVERACTIVATION) 2. TS 1. loss of function mutations (INACTIVATION) 5. alleles mutated in tumors 1. PO 1. generally one allele is overactivates 2. TS 1. both alleles must be inactivated
34
describe the function of proto oncogenes and tumor suppressors in cell number regulation
1. normal function in cell groth and proliferation 1. PO 1. induce cell growth or proliferation 2. TS 1. inhibit cell growth or proliferation 2. normal function in cell death 1. PO 1. inhibit cell death anti-apoptotic 2. TS 1. induce cell death (pro)-apoptotic 3. ***_normal function in cell number regulation_*** 1. ***_PO_*** 1. ***_increase cell number_*** 2. ***_TS_*** 1. ***_decrease cell number_*** 4. genetic changes in tumor formation 1. PO 1. gain of function mutations (OVERACTIVATION) 2. TS 1. loss of function mutations (INACTIVATION) 5. alleles mutated in tumors 1. PO 1. generally one allele is overactivates 2. TS 1. both alleles must be inactivated
35
describe the genetic changes in tumors formation with respect to proto oncogenes and tumor suppressors
1. normal function in cell groth and proliferation 1. PO 1. induce cell growth or proliferation 2. TS 1. inhibit cell growth or proliferation 2. normal function in cell death 1. PO 1. inhibit cell death anti-apoptotic 2. TS 1. induce cell death (pro)-apoptotic 3. normal function in cell number regulation 1. PO 1. increase cell number 2. TS 1. decrease cell number 4. ***_genetic changes in tumor formation_*** 1. ***_PO_*** 1. ***_gain of function mutations (OVERACTIVATION)_*** 2. ***_TS_*** 1. ***_loss of function mutations (INACTIVATION)_*** 5. alleles mutated in tumors 1. PO 1. generally one allele is overactivates 2. TS 1. both alleles must be inactivated
36
Describe the alleles mutated for proto oncogens and tumor supressors with respect to tumors
1. normal function in cell groth and proliferation 1. PO 1. induce cell growth or proliferation 2. TS 1. inhibit cell growth or proliferation 2. normal function in cell death 1. PO 1. inhibit cell death anti-apoptotic 2. TS 1. induce cell death (pro)-apoptotic 3. normal function in cell number regulation 1. PO 1. increase cell number 2. TS 1. decrease cell number 4. genetic changes in tumor formation 1. PO 1. gain of function mutations (OVERACTIVATION) 2. TS 1. loss of function mutations (INACTIVATION) 5. ***_alleles mutated in tumors_*** 1. ***_PO_*** 1. ***_generally one allele is overactivates_*** 2. ***_TS_*** 1. ***_both alleles must be inactivated_***
37
overactivated proto-oncogens
overactivated proto-oncogenes are called ***_oncogenes_***
38
list the important proto-oncogen examples for the following 1. receptors 2. signal transduction molecules 3. transcription factors 4. epigenetic modifiers 5. telomerase 6. anti-apoptotic factors 7. cell-cycle inducers
1. receptors 1. EGF receptor-breast cancer 2. signal transduction molecules 1. Ras, Abl 3. transcription factors 1. Myc 4. epigenetic modifiers 1. histone acyltransferase-increase in activity 5. telomerase 1. telomerase- overactivity 6. anti-apoptotic factors 1. Bcl-2 7. cell-cycle inducers 1. cyclins
39
list examples of proto oncogen receptors and signal transduction factors
1. receptors 1. EGF receptor-breast cancer 2. signal transduction molecules 1. Ras, Abl 3. transcription factors 1. Myc 4. epigenetic modifiers 1. histone acyltransferase-increase in activity 5. telomerase 1. telomerase- overactivity 6. anti-apoptotic factors 1. Bcl-2 7. cell-cycle inducers 1. cyclins
40
list examples of proto oncogen transcritption factos and epigenetic modifiers
1. receptors 1. EGF receptor-breast cancer 2. signal transduction molecules 1. Ras, Abl 3. transcription factors 1. Myc 4. epigenetic modifiers 1. histone acyltransferase-increase in activity 5. telomerase 1. telomerase- overactivity 6. anti-apoptotic factors 1. Bcl-2 7. cell-cycle inducers 1. cyclins
41
list examples of proto oncogen telomerase, anti-apoptotic factos, and cell-cycle inducers
1. receptors 1. EGF receptor-breast cancer 2. signal transduction molecules 1. Ras, Abl 3. transcription factors 1. Myc 4. epigenetic modifiers 1. histone acyltransferase-increase in activity 5. telomerase 1. telomerase- overactivity 6. anti-apoptotic factors 1. Bcl-2 7. cell-cycle inducers 1. cyclins
42
list conversion three ways to convert a proto oncogene into an oncogene(general)
1. radiation or chemical carcinogen 1. mutation in coding region causes production of hyper active protein 2. mutation in promoter causes excessive expression 2. gene rearrangement 1. proto-oncogene is now under control of strong promtoers or enhance 2. prot-oncogene or a portion of it is fused with another gene 1. fusion protein is either overproduced or hyperactive 3. gene amplification 1. expression of multiple copies of the prot-oncogene
43
list the possible effects and locations for radiation or chemical carcinogens affects on proto-oncogens
1. radiation or chemical carcinogen 1. mutation in coding region causes production of hyper active protein 2. mutation in promoter causes excessive expression 2. gene rearrangement 1. proto-oncogene is now under control of strong promtoers or enhance 2. prot-oncogene or a portion of it is fused with another gene 1. fusion protein is either overproduced or hyperactive 3. gene amplification 1. expression of multiple copies of the prot-oncogene
44
list the two possible ways for genetic rearrangment to generat a oncogene from a proto-oncogene
1. radiation or chemical carcinogen 1. mutation in coding region causes production of hyper active protein 2. mutation in promoter causes excessive expression 2. gene rearrangement 1. proto-oncogene is now under control of strong promtoers or enhance 2. prot-oncogene or a portion of it is fused with another gene 1. fusion protein is either overproduced or hyperactive 3. gene amplification 1. expression of multiple copies of the prot-oncogene
45
What can lead to the expression of multiple copies of the proto-oncogene?
1. radiation or chemical carcinogen 1. mutation in coding region causes production of hyper active protein 2. mutation in promoter causes excessive expression 2. gene rearrangement 1. proto-oncogene is now under control of strong promtoers or enhance 2. prot-oncogene or a portion of it is fused with another gene 1. fusion protein is either overproduced or hyperactive 3. gene amplification 1. expression of multiple copies of the prot-oncogene
46
List the following for CML 1. chromosome translocation 2. the overactivates proto-oncogene
1. ***_chronic mylogenous leukemia (CML)_*** 1. ***_t(9;22)_*** 2. ***_BCR-ABL_*** 2. Burkitt lymphoma 1. t(8;14), t(8;22), t(2;8) 2. MYC 3. follicular lymphoma 1. t(14;18) 2. BCL-2 4. mantle cell lymphoma 1. t(11;14) 2. cyclinD
47
List the following for burkitt lympohoma 1. chromosome translocation 2. the overactivates proto-oncogene
1. chronic mylogenous leukemia (CML) 1. t(9;22) 2. BCR-ABL 2. Burkitt lymphoma 1. t(8;14), t(8;22), t(2;8) 2. MYC 3. follicular lymphoma 1. t(14;18) 2. BCL-2 4. mantle cell lymphoma 1. t(11;14) 2. cyclinD
48
List the following for follicular lymphoma 1. chromosome translocation 2. the overactivates proto-oncogene
1. chronic mylogenous leukemia (CML) 1. t(9;22) 2. BCR-ABL 2. Burkitt lymphoma 1. t(8;14), t(8;22), t(2;8) 2. MYC 3. ***_follicular lymphoma_*** 1. ***_t(14;18)_*** 2. ***_BCL-2_*** 4. mantle cell lymphoma 1. t(11;14) 2. cyclinD
49
List the following for mantle lymphoma 1. chromosome translocation 2. the overactivates proto-oncogene
1. chronic mylogenous leukemia (CML) 1. t(9;22) 2. BCR-ABL 2. Burkitt lymphoma 1. t(8;14), t(8;22), t(2;8) 2. MYC 3. follicular lymphoma 1. t(14;18) 2. BCL-2 4. ***_mantle cell lymphoma_*** 1. ***_t(11;14)_*** 2. ***_cyclinD_***
50
what are the diseases 1. t(9;22) with an increase in this gene BCR-ABL 2. t(8;14), t(8;22), t(2;8) with an increase in this gene MYC
1. chronic mylogenous leukemia (CML) 1. t(9;22) 2. BCR-ABL 2. Burkitt lymphoma 1. t(8;14), t(8;22), t(2;8) 2. MYC 3. follicular lymphoma 1. t(14;18) 2. BCL-2 4. mantle cell lymphoma 1. t(11;14) 2. cyclinD
51
what are the diseases ? 1. t(14;18) with an increase in BCL-2 2. t(11;14) with an increase in cyclinD
1. chronic mylogenous leukemia (CML) 1. t(9;22) 2. BCR-ABL 2. Burkitt lymphoma 1. t(8;14), t(8;22), t(2;8) 2. MYC 3. follicular lymphoma 1. t(14;18) 2. BCL-2 4. mantle cell lymphoma 1. t(11;14) 2. cyclinD
52
How can the asminstration of Geevac assist an individual with altered philidelphia c'some t(9;22)?
1. ABL proto oncogene (***_tyrosine kinase)_*** is tranlocate from chromosome 9 to chromosome 22, and it is joined to the BCR gene 2. ***_BCR-ABL chimeric protein_*** 1. ***_increased Y-kinase activity_*** 3. philidelphia chromosome 1. altered chromosome 22 4. cause 1. escessive proliferation of myeloid precursosrs in bone marrow, leading to elevated levels of granulocytes in the blood 5. ***_managed_*** 1. ***_tyrosine inhibitors_*** 1. ***_Gleevac_***
53
explain the type of gene conversion associated with CML.
1. ***_ABL proto oncogene (tyrosine kinase) is tranlocate from chromosome 9 to chromosome 22, and it is joined to the BCR gene_*** 2. ***_BCR-ABL chimeric protein_*** 1. ***_increased Y-kinase activity_*** 3. philidelphia chromosome 1. altered chromosome 22 4. cause 1. escessive proliferation of myeloid precursosrs in bone marrow, leading to elevated levels of granulocytes in the blood 5. managed 1. tyrosine inhibitors 1. ***_Gleevac_***
54
This mutation causes excessive proliferation of myeloid precursors in bone marrow- leading to elevated levels of granulocytes How is this disease managed?
1. ABL proto oncogene (***_tyrosine kinase)_*** is tranlocate from chromosome 9 to chromosome 22, and it is joined to the BCR gene 2. BCR-ABL chimeric protein 1. increased Y-kinase activity 3. philidelphia chromosome 1. altered chromosome 22 4. cause 1. excessive proliferation of myeloid precursosrs in bone marrow, leading to elevated levels of granulocytes in the blood 5. managed 1. tyrosine inhibitors 1. ***_Gleevac_***
55
describe the condition associated with t(9;22)
1. ABL proto oncogene (***_tyrosine kinase)_*** is tranlocate from chromosome 9 to chromosome 22, and it is joined to the BCR gene 2. BCR-ABL chimeric protein 1. increased Y-kinase activity 3. philidelphia chromosome 1. altered chromosome 22 4. cause 1. escessive proliferation of myeloid precursosrs in bone marrow, leading to elevated levels of granulocytes in the blood 5. managed 1. tyrosine inhibitors 1. ***_Gleevac_***
56
Describe the following for t(8;14) 1. type of gene conversion? 2. what is the promtor that controls the gene? explain
burkitts lymphoma 1. myc proto-oncogene is tranlocated from chromosome 9-\>14 (***_gene rarrangement)_*** 2. MYC is now controlled by the promoter region of the IgHeavy chain genes 1. smaller % of cases are caused by MYC translocation behind the promter region of Iglight chains 3. MYC protein is a transcription factor and will be overexpressed in B-cells, promoting cell growth and proliferation 4. patient features 1. B-cell tumors in jaw
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A patient appears with tumors that cause a deformation of the jaw. Samples come back as B-cell tumors. what is the disease and what type of mutation occured/where?
1. myc proto-oncogene is tranlocated from chromosome 9-\>14 2. MYC is now controlled by the promoter region of the IgHeavy chain genes 1. smaller % of cases are caused by MYC translocation behind the promter region of Iglight chains 3. MYC protein is a transcription factor and will be overexpressed in B-cells, promoting cell growth and proliferation 4. patient features 1. B-cell tumors in jaw
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A disease is associated with a proto-oncogene translocating next to a heavy chain immunoglobulin promter and being OVER expressed. The anti-apoptotic factor is NOT affected and the cyclin D is at normal levels.
Burkitt lymphoma 1. myc proto-oncogene is tranlocated from chromosome 8-\>14 2. MYC is now controlled by the promoter region of the IgHeavy chain genes 1. smaller % of cases are caused by MYC translocation behind the promter region of Iglight chains 3. MYC protein is a transcription factor and will be overexpressed in B-cells, promoting cell growth and proliferation 4. patient features 1. B-cell tumors in jaw
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Patients blood work shows an incredibly high B-cell count and the genes show the following:t(18;14) what is the disease and what type of conversion took place
1. translocation moves Bcl-2 proto oncogene from chromosome 18 to chromosome 14 and places it under the promoter control of immunoglobulin heavy chain genes, so Bcl-2 will be over expressed in B-cells 2. BCL-2 protein is an anti-apoptotic factor 3. elevated BCL-2 protein will prevent death of B cells which leads to massive expansion of B-cell populations
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BCL-2 protein is over expressed in a patients B-cell population. 1. describe the disease 2. factor affected
1. translocation moves Bcl-2 proto oncogene from chromosome 18 to chromosome 14 and places it under the promoter control of immunoglobulin heavy chain genes, so Bcl-2 will be over expressed in B-cells 2. BCL-2 protein is an anti-apoptotic factor 3. elevated BCL-2 protein will prevent death of B cells which leads to massive expansion of B-cell populations
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increase in what protein is associated with t(11;14)? 1. disease 2. protein
***_mantle cell lymphoma_*** 1. translocation moves cyclin D1 proto-oncogene from chromosome 11-\>14 and places it under the promoter control of Igheavy chain genes and will be overexpressed in B cells 2. ***_cyclin D1 drives the G1phase in the cell cycle_*** 3. high cyclin D1 in B cells will cause increased proliferation, which leads to B-cell lymphoma
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Mantle cell lymphoma is a disease associated with what type of conversion? explain
1. translocation moves cyclin D1 proto-oncogene from chromosome 11-\>14 and places it under the promoter control of Igheavy chain genes and will be overexpressed in B cells 2. cyclin D1 drives the G1phase in the cell cycle 3. high cyclin D1 in B cells will cause increased proliferation, which leads to B-cell lymphoma
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High cyclin D is noted in a patient sample of B cells taken from the blood. Explain the disease and known conversion.
1. translocation moves cyclin D1 proto-oncogene from chromosome 11-\>14 and places it under the promoter control of Igheavy chain genes and will be overexpressed in B cells 2. cyclin D1 drives the G1phase in the cell cycle 3. high cyclin D1 in B cells will cause increased proliferation, which leads to B-cell lymphoma
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a patient presents with the following 1. upregulated genes from c'some 14 2. Ig heavy chain promoter 3. increased B cell proliferation what diseases could it be and what could you look at to dissociate them?
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A patient presents with a lump on their cervix. describe the following 1. disease that should be screened 2. what this infectious agent acts on? 3. explain the process involved 1. two proteins are affected
1. paipilloma virus 1. proetins of teh virus inactivate tumor suppresors Rb and p53 2. causes cervical cancer 2. HTLV-1(human T-cell lymphotropic virus 1) 1. the tax protein of the virus is a coactivator of proto-oncogenes 2. causes T-cell leukemia 3. HIV(human immunodefency virus) 1. the Tat transcription factor of the virus activates the synthesis of cytokines, which promotes T-cell proliferation 2. causes 1. non-hodgkins lymphoma
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This virus causes T-cell leukemia
1. paipilloma virus 1. proetins of teh virus inactivate tumor suppresors Rb and p53 2. causes cervical cancer 2. ***_HTLV-1(human T-cell lymphotropic virus 1)_*** 1. ***_the tax protein of the virus is a coactivator of proto-oncogenes_*** 2. ***_causes T-cell leukemia_*** 3. HIV(human immunodefency virus) 1. the Tat transcription factor of the virus activates the synthesis of cytokines, which promotes T-cell proliferation 2. causes 1. non-hodgkins lymphoma
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a patient with HIV has a higher risk of developing what disease with T-cells?
1. paipilloma virus 1. proetins of teh virus inactivate tumor suppresors Rb and p53 2. causes cervical cancer 2. HTLV-1(human T-cell lymphotropic virus 1) 1. the tax protein of the virus is a coactivator of proto-oncogenes 2. causes T-cell leukemia 3. ***_HIV(human immunodefency virus)_*** 1. ***_the Tat transcription factor of the virus activates the synthesis of cytokines, which promotes T-cell proliferation_*** 2. ***_causes_*** 1. ***_non-hodgkins lymphoma_***
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list the associated types of tumor suppressors 1. receptors 2. signal transduction molecules 3. transcription factos 4. epigenetic modifiers 5. pro-apoptotic factors 6. cell-cycle regulators 7. DNA repair molecules
1. receptors 1. TGFB receptor 2. signal transduction molecules 1. NF-1 3. transcription factos 1. p53 4. epigenetic modifiers 1. histone acetyltransferase- silenced 5. pro-apoptotic factors 1. death receptors-cell cannot dies via WBC 6. cell-cycle regulators 1. Rb 7. DNA repair molecules 1. BRCA1-cancer formation is dependent on mutation
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list exaples of receptor and signal transduction tumor suppressors
1. receptors 1. TGFB receptor 2. signal transduction molecules 1. NF-1 3. transcription factos 1. p53 4. epigenetic modifiers 1. histone acetyltransferase- silenced 5. pro-apoptotic factors 1. death receptors-cell cannot dies via WBC 6. cell-cycle regulators 1. Rb 7. DNA repair molecules 1. BRCA1-cancer formation is dependent on mutation
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list an important transcription factor, epigenetic modifier and pro-apoptotic factor tumor suppresor
1. receptors 1. TGFB receptor 2. signal transduction molecules 1. NF-1 3. transcription factos 1. p53 4. epigenetic modifiers 1. histone acetyltransferase- silenced 5. pro-apoptotic factors 1. death receptors-cell cannot dies via WBC 6. cell-cycle regulators 1. Rb 7. DNA repair molecules 1. BRCA1-cancer formation is dependent on mutation
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list cellcycle regulator and DNA repair molecule tumor suppressors
1. receptors 1. TGFB receptor 2. signal transduction molecules 1. NF-1 3. transcription factos 1. p53 4. epigenetic modifiers 1. histone acetyltransferase- silenced 5. pro-apoptotic factors 1. death receptors-cell cannot dies via WBC 6. cell-cycle regulators 1. Rb 7. DNA repair molecules 1. BRCA1-cancer formation is dependent on mutation
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describe the two hit theory and its inactivation of tumor supressor genes and the sources
inactivation of tumor suppressor genes-two hit theory 1. germline disease 1. mostly autosomal dominant- seen in every generation 2. sporadic 1. majority of tumors 2. 95% in elderly sources 1. ***_loss of heterozygosity_*** 1. loss of the entire normal gene 1. deletion 2. mitotic, non-disjunction 3. abnormal mitotic c'some recombination 2. loss of function 3. epigenetic silencing of normal allele
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What type of change is associated with retinoblastoma? explain
1. Rb is a tumor suppressor that regulates the G1/S cell cycle progression by sequestering the E2F transcription factor 2. mutations in Rb lead to tumor in the retina (retinoblastoma) 3. the cancer has both heritable and sporadic form.
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a child presents with a white reflection of the retina. explain the two forms
1. Rb is a tumor suppressor that regulates the G1/S cell cycle progression by sequestering the E2F transcription factor 2. mutations in Rb lead to tumor in the retina (retinoblastoma) 3. the cancer has both ***_heritable and sporadic form_***.
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80 year patient presents with a tumor wich has a loss of function mutation in the p53. What is this type of cancer and what are the normal/impaired functions of the protein?
1. DNA damage increases the level and activation of p53 protein 2. p53 protein is a transcritption factor that induces the production of proteins that 1. p21 1. CKI, arresting cell cylce 2. GADD45 1. DNA repair enzymes 3. unsuccesful- apoptosis 1. IGF-BP3 and Bax 3. ***_consequence_*** 1. ***_defective p53 associated with almost all sporadic cancers_***
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A cell line is unable to stop the cell cycle after detecting damage to the DNA. Where could the mutation be? explain the mutation and the normal/impaired functions associated
1. DNA damage increases the level and activation of p53 protein 2. p53 protein is a transcritption factor that induces the production of proteins that 1. p21 1. CKI, arresting cell cylce 2. GADD45 1. DNA repair enzymes 3. unsuccesful- apoptosis 1. IGF-BP3 and Bax 3. consequence 1. defective p53 associated with almost all sporadic cancers
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a patient speaks with a physician about the multiple types of cancer seen in his family: breast, sarcoma and other malignant neoplasms. What could this be mutation in?
1. Li-Fraumeni syndrome 1. hereditary cancer caused by p53 mutations 2. multiple types of cancers in families
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hereditary cancer caused by p53 mutations
1. Li-Fraumeni syndrome 1. hereditary cancer caused by p53 mutations 2. multiple types of cancers in families
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patient sample presents with cafe au lait spots and freckles just under the armpits. What could this be associated with? Where is the mutation?
***_neruofibromatosis type1_*** 1. neurofibromin-1 (NF-1) 1. regulates the activity of RAS (proto-oncogene) in the Y-kinase receptor pathway) in peripheral nerve sheets 2. RAS is active as long as it is bound to GTP 3. NF-1 binds to RAS and activates the GTPase domain of RAS 4. GTP is hydrolyzed to GDP, and RAS becomes inactive 5. *_Cause_* 1. *_loss of function mutation in NF-1 lead to overactivation of RAS in peripheral nerve sheets and_* ***_neurofobromatosis type1_***
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A mutation here leads to an inactivation of RAS. Is this a proto-oncogene or a tumor supressor gene? What is RAS?
1. ***_neurofibromin-1 (NF-1)- tumor supressor (inactivate a proto-oncogene)_*** 1. regulates the activity of ***_RAS (proto-oncogene)_*** in the Y-kinase receptor pathway) in peripheral nerve sheets 2. RAS is active as long as it is bound to GTP 3. NF-1 binds to RAS and activates the GTPase domain of RAS 4. GTP is hydrolyzed to GDP, and RAS becomes inactive 5. loss of function mutation in NF-1 lead to overactivation of RAS in peripheral nerve sheets and ***_neurofobromatosis type1_***
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loss of function mutation in NF-1 leads to what disease?
1. neurofibromin-1 (NF-1) 1. regulates the activity of RAS (proto-oncogene) in the Y-kinase receptor pathway) in peripheral nerve sheets 2. RAS is active as long as it is bound to GTP 3. NF-1 binds to RAS and activates the GTPase domain of RAS 4. GTP is hydrolyzed to GDP, and RAS becomes inactive 5. loss of function mutation in NF-1 lead to overactivation of RAS in peripheral nerve sheets and ***_neurofobromatosis type1_***
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Cell-cell interaction includes two important attachments. Explain the relationship, are they and are they PO or TS?
1. healthy 1. cell-cell contact arrests the cell cycle in the G0/G1 stage 2. cell-cell contact is mediated by ***_E-cadherin_***(***_tumor supressor)_*** 1. binds to a poten***_t proto-oncogene_*** ***_b-catenin_*** 2. disease- ***_adenomatous polyposis coli (APC)_*** 1. ​b-catenin, PO, induces expression of MYC 1. MYC-transcriptional co-activator that promotes cell cycle 2. APC is a tumor suppressor that targets b-catenin for degradation 3. **_APC mutations are associated with_** 1. **_​*familial adenomatous polyposis (colon cancer)*_**
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E-cadherin binds to other cells and b-catenin. what happens if the b-catenin dissociates? normal/disease?
1. healthy 1. cell-cell contact arrests the cell cycle in the G0/G1 stage 2. cell-cell contact is mediated by ***_E-cadherin_***(tumor supressor) 1. binds to a potent proto-oncogene ***_b-catenin_*** 2. disease- ***_adenomatous polyposis coli (APC)_*** 1. ​b-catenin, PO, induces expression of MYC 1. MYC-transcriptional co-activator that promotes cell cycle 2. APC is a tumor suppressor that targets b-catenin for degradation 3. **_APC mutations are associated with_** 1. **_​*familial adenomatous polyposis (colon cancer)*_**
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mutation in APC causes what? how? is it a PO or TS?
1. healthy 1. cell-cell contact arrests the cell cycle in the G0/G1 stage 2. cell-cell contact is mediated by ***_E-cadherin_***(tumor supressor) 1. binds to a potent proto-oncogene ***_b-catenin_*** 2. disease- ***_adenomatous polyposis coli (APC)_*** 1. ​b-catenin, PO, induces expression of MYC 1. MYC-transcriptional co-activator that promotes cell cycle 2. APC is a tumor suppressor that targets b-catenin for degradation 3. **_APC mutations are associated with_** 1. **_​*familial adenomatous polyposis (colon cancer)*_**
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mutation in what tumor suppresor gene can lead to accumulation of mutations?
DNA repair genes as tumor suppresors 1. repair is an important component of the cell cycle. If not impolemented correctly, result in apoptosis or mutation accumulation 2. BRCA1 and 2 1. hereditary breast and ovarian cancer 2. autosomal dominant
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inherted in an autossomal dominant pattern. Can lead to breast and ovarian cancer.
DNA repair genes as tumor suppresors 1. repair is an important component of the cell cycle. If not impolemented correctly, result in apoptosis or mutation accumulation 2. BRCA1 and 2 1. hereditary breast and ovarian cancer 2. autosomal dominant
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BRCA1 and BRCA2 are well known PO or TS? explain how mutations here are associated with cancer development.
DNA repair genes as tumor suppresors 1. repair is an important component of the cell cycle. If not impolemented correctly, result in apoptosis or mutation accumulation 2. BRCA1 and 2 1. hereditary breast and ovarian cancer 2. autosomal dominant
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this is followed by multiple mutations in proto-oncogens and/or tumor suppressor genes. explain useing APC as an example
tumor to cancer transformation 1. formation of cancers start with a ***_driver mutation_*** followed by ***_multiple muations_*** in proto-oncogens and/or tumor suppresor genes 2. example is the formation of sporadic colon cancer adenomas: benign tumors of glandular/epithelial origin
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APC mutation is associated with the term "driver muation" explain.
tumor to cancer transformation 1. formation of cancers start with a ***_driver mutation_*** followed by ***_multiple muations_*** in proto-oncogens and/or tumor suppresor genes 2. example is the formation of sporadic colon cancer
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adenomase: benign tumors of glandular/epithelial origin
tumor to cancer transformation 1. formation of cancers start with a ***_driver mutation_*** followed by ***_multiple muations_*** in proto-oncogens and/or tumor suppresor genes 2. example is the formation of sporadic colon cancer

2020 MHS Genetics Unit2 (5 decks)

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