Neoplasia - Cancer genes
5 important questions on Neoplasia - Cancer genes
Welk gen is recessief en welk dominant?
Tumor suppressor gene is recessive mutatie.
Wat doen proto-oncogenes? 4 voorbeelden
Het zijn genen voor:
1. growth hormone (extracellular)
2. growth hormone receptor (membrane) (bijv EGFB)
3. signal protein (cytoplasm) (RAS)
4. transcription factor (cell nucleus)(MYC)
Hoe gaat translocatie van oncogenes in zn werk?
Een deel van een chromosoom verplaatst naar een ander chromosoom.
Gevolgen:
- Overexpressie: door een translocatie kan een gen dicht bij een nieuwe promotor komen te liggen. Deze promotor kan heel actief zijn en daardoor ervoor zorgt dat er ook meer oncogenen worden gemaakt: dit zie je vaak bij de MYC gene. Dus het gen blijft zelf in tact
- Fusion gene: een deel van een gen komt samen met een ander gen. Dit is zo bij BCR-ABL gene
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Hoe pathogenese achter retinoblastoma?
Het gaat vaak om 1 punt mutatie. En om 1 deletion (van chromosoom 13q14) = vaak in combinatie.
1. Sporadische vorm = treedt vaak op bij 5 jarigen.
2. Familiaire vorm = je hebt nog maar 1 mutatie nodig bij de kinderen. Treedt vaak eerder op en is vaak aan twee ogen.
Wat inactiveert p53?
- Een verlies van gene locus op chromosoom 17p13
- Door HPV16
Het is vaak een combinatie van mutatie en verlies van een gen.
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