Tumour Pathology 5 Flashcards
How do tumour suppressor genes function?
Discourage cell growth or temporarily halt cell division to carry out DNA repair
What is an anti-oncogene?
A tumour suppressor geneResponsible for ApoptosisDNA repair and the negative regulation of mitosis
What do mutations in retinoblastoma gene cause?
Favour cell proliferation since it is an anti-oncogene (a tumour suppressor gene)
What other mutations can cause the same effect of a mutated RB gene?
Mutational activation of Cyclin or CDK (naturally responsible for the phosphorylation of the pRB)Mutational inactivation of CDKI’s
What is the inherited form of oncogenesis?
One defective copy of the RB gene Somatic point mutation of the other copy
What is the sporadic form of oncogenesis?
Both hits occur in a single cell
What portion of cancers are hereditary?
5-10% of all cancers
Give two examples of inherited cancer syndromes?
Familial retinoblastomasFamilial adenomatous polyposis of colon
What gene is responsible for signal transduction and also FAP colon cancer?
APC
What gene is responsible for cell cycle regulation and causes retinoblastoma and osteosarcomas?
Rb
What gene inhibits CDK’s and causes malignant melanoma?
p16 (INK4a)
Which gene is responsible for DNA repair and causes breast and ovarian cancer?
BRCA 1/2
What can cause alteration of proto-oncogene structure?
Point mutationChromosome rearrangements and translocations
What can cause dysregulation of proto-oncogene expression?
Gene amplificationOverexpression
Give examples of oncoprotein products
Growth factorsGrowth factor receptorsProteins involved in signal transductionNuclear regulatory proteinsCell cycle regulators