Embyronal cancer genes Flashcards

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1
Q

What is the risk of developing cancer in your lifetime vs in childhood?

A
  • lifetime 1 in 3
  • childhood 1 in 600
  • second most common cause of childhoos death after accidents
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2
Q

What kind of cells do adult cancers come from vs childhood cancers?

A
  • adult cancers come usually from epithelial cells and cause carninomas
  • childhood cancers come from embyronal cells and cause embyronal cancers
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3
Q

What are 3 distinct differences between adult and childhood cancers?

A

genetic predisposition and oncogene involvement is seen in both - just the number of genetic steps is different similar genes are involved especially in late stage tumours such as p53

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4
Q

What are chromosome translocations and what can they lead to?

A
  • chromosome breakage and exchange of genetic material
  • proto-oncogene activation by placing strong promoters/enhancers nearby
  • fusion proteins can be formed
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5
Q

What are some examples of childhood cancers that involve fusion proteins?

A
  • very common in leukaemia e.g. PML-RARA in APML
  • can also be in soloid tumours
  • Ewing bone tumours have translocations resulting in fusion proteins that favour tumour cell expansion
  • Desmoplastic small round cell tumours have fusion proteins involving the WT1 gene that make it tumour promoting
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6
Q

How can fusion proteins be used in cancer diagnosis?

A
  • specific fusion proteins seen in certain cancers
  • can act as markers and measured by PCR
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7
Q

What is retinoblastoma?

A
  • eye tumour
  • 40% heriditary with early onset and multiple tumours
  • 60% sporadic with one tumour in one eye
  • Rb is the classical TSG
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8
Q

How does Knudson’s 2-hit theory differ between sporadic and hereditary cancers?

A

in hereditary cancers the first hit is already present and germline so only one further somatic mutation is required

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9
Q

What is RB1?

A
  • tumour suppressor gene that regulates teh G1/S transition
  • pushes for terminal differentiation and mutations can lead to stem cell depletion, tumour formation
  • always mutated in retinoblastoma
  • CMT lectures
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10
Q

Give 3 examples of epigenetic alterations that may be seen in embryonal cancers

A
  • tumour suppressor gene hypermethyatlion
  • long-range epigenetic silencing (colon cancer)
  • loss of imprinting (e.g. IGF2/H19)
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