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Genetica > Erfelijke aspecten tumorontwikkeling > Flashcards

Erfelijke aspecten tumorontwikkeling Flashcards

1
Q

pRB

A

proteïne RetinoBlastoma

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2
Q

CDK

A
  • Cycline D kinase

- Activeert pRB en DNA polymerase

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3
Q

DDR

A
  • DNA Damage Response
  • PARP (G2)
  • ATM (G1-S en G2-M)
  • ATR (S en G2-M)
  • Fanconi anaemia netwerk (S)
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4
Q

PARP

A

Poly ADP Ribose Polymerasen

  • Binden op NAD
  • MMR hecht hierop
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5
Q

NAD

A

Nicotinamide Adenine Dinucleotide

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6
Q

MMR

A

MisMatch Repair

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7
Q

ATM

A

Ataxia Telangiectase Mutated

  • PI3K gerelateerd proteíne kinase (PIKK)
  • Actief bij dubbelstrengbreuk
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8
Q

Dubbelstrengbreuk oorzaken

A
  • ROS
  • Straling
  • Meiose
  • VDJ recombinatie
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9
Q

ATR

A

ATM en RAD3 Related

- Werkt op enkelstrengbreukenn

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10
Q

Actieve FAN na ATR fosforylatie

A
  • FAN1
  • FANCP
  • FANCO
  • FANCA
  • FANCE
  • FANCB
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11
Q

Actieve FAN na ubiquitine vrij

A
  • FANCD2

- FANC1

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12
Q

Crosslink uitknippen door

A
  • FAN1
  • FANCP
  • FANCO
  • FANCM
  • FANCD2
  • FANCI
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13
Q

SCC rassen

A
  • Haflinger
  • Belgian
  • Percheron
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14
Q

SCC

A
  • Squameus Cel Carcinoma
  • missense mutatie DDB2
  • UV belangrijk
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15
Q

CML

A
  • Chronische Myeloïde Leukemie
  • Philadelphia chromosoom mens
  • Raleigh chromosoom hond
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16
Q

Burkittslymfoom

A
  • cMYC gen onder controle van sterke promotor
  • Door translocatie
  • Sterke promotor is van IgH enhancer in B-lymfo’s
  • Vaker in Afrika door Eppstein Barr virus
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17
Q

Oraal SCC kat

A
  • STAT 3 ontregeling
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18
Q

DBD

A

DNA bindend domein

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19
Q

TAD

A

Trans Activating Domein

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20
Q

SSD

A

Signal Sensing Domein

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21
Q

MYC

A

MYelo Cytosmatosis

22
Q

MAX

A

MYC Associated factor X

23
Q

Tumorsuppressorgenen

A
  • SMAD2, SMAD4, CDKN2B, P15
  • E-cadherine in adherens junctions
  • PTEN
  • p53
  • Celadhesie en cytoskelet tumorsuppressoren
24
Q

Histiocytische Sarcoma

A
  • Subcutaan in ledematen (lokaal)
  • Visceraal in veel organen (lokaal)
  • Mutaties CDKN2A = p14ARF mutatie = inhibitor van inhibitor van p53
25
Q

ARF

A

Alternatief open Reading Frame

26
Q

Celadhesie en cytoskelet tumorsuppressoren

A
  • CADM1
  • E-cadherine (CDH1)
  • Beta catenine (CTNNB1)
27
Q

Genen mastceltumoren

A
  • CADM1
  • KIT
  • Hyaluronidasen
28
Q

Destructiecomplex afbraak vrij CTNNB1

A
  • CKIa kinase
  • GSK3b kinase
  • APC structuureiwit
  • Axin structuureiwit
29
Q

FZD

A

Frizzled drosphilia

30
Q

LRP

A

Low density lipoproteïne
Receptor
Proteïne

31
Q

DSH

A

Dockingsite Axin

32
Q

LEF

A

Lymfocyte Enhancer binding Factor

33
Q

PTEN

A
  • Fosfatase en TENsine homoloog
  • Inhibeert PI3K/AKT netwerk
  • Defosforyleert PIP3
34
Q

Fosforylatie door AKT

A
  • CDKN1A
  • GSK3
  • mTOR
35
Q

Netwerken die rol spelen in mastceltumoren

A
  • PTEN
  • WNT/Beta catenine
  • BRCA1
  • BRCA2
  • p53
36
Q

Lymfoma boxer

A
  • Mutaties in PTEN of mTOR

- T-cel lymfoma

37
Q

Lymfoma Cocker Spaniël

A

B-cel lymfoma

38
Q

Lymfoma Golden retriever

A
  • T en B

- Mutaties cellulair metabolisme

39
Q

Stress situaties waarbij p53 geactiveerd wordt

A
  • hypoxie
  • DNA beschadiging
  • kritische inkorting telomeren
40
Q

Doelwitgenen p53

A
  • MDM2

- PTEN

41
Q

TRAIL

A

TNF Related Apoptose Inducing Ligand

42
Q

TR

A

Tumor Necrosis Receptor

43
Q

SMAC

A

Secundaire Mitochondriale Activator van Caspases

44
Q

IAP

A

Inhibitor of APoptose

45
Q

Chronische lymfocytische leukemie

A
  • Opstapeling WBCs in beenmerg, milt, circulatie
  • Deletie chromosomaal gebied met oa:
    1) RB1
    2) microRNA’s miR15a en miR16-1
    3) regulatoren van BCL2
46
Q

BAX

A

BCL2 Associated proteïn X

47
Q

BAK

A

BCL2 Antagonist en Killer

48
Q

EMT

A

Epitheliale Mesenchymale Transitie

Bijvoorbeeld MAPK/ERK en E-cadherine

49
Q

MAPK

A

Mitogen Activated Protein Kinases

50
Q

Verschillen in loci bij osteosarcoma hond

A
  • PTEN
  • TP 53
  • RB
  • CDKN2A

Genetica (9 decks)

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