Week 2 - Cancer Genome Flashcards

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1
Q

What did Theodor Boveri propose about the origins of a cancerous tumour?

A

‘A cancerous tumour was a cell with scrambled chromosomes’

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2
Q

What are the 2 reasons to study cancer genomes?

A
  1. Increase knowledge of the biology of cancer

2. Clinical Application

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3
Q

Give at least 4 types of genomic change in cancer.

A
Aneuploidy
Translocation
Point mutation
Inversion
Epigenetic
Telomeres
Copy number alteration
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4
Q

What is the difference between ‘passenger’ and ‘driver’ mutations?

A

Passenger - does not contribute to cancer development

Driver - Causally implicated in carcinogenesis

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5
Q

How are driver mutations grouped in their identification?

A

They are a small proportion of mutations present in many tumours.

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6
Q

What are the two main ways that tumourigenesis can occur?

A
  1. Loss of a tumour supressor gene.

2. Amplification of an oncogene.

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7
Q

What is the definition of Aneuploidy?

A

Deviation form normal number of chromosomes

Common in cancer and are as a result of defects in chromosome segregration in cell division

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8
Q

What is Crizotinib the treatment for?

A

Non small cell lung cancer caused by EML4-ALK gene fusion.

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9
Q

How is the EML4-ALK fusion gene caused?

A

An inversion at chromosome 2.

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10
Q

What is the definition of ‘Epigenetic Changes’?

A
(Heritable) chemical 
modifications to the genome 
or its scaffold that do not 
involve changes in 
nucleotide sequence
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11
Q

What is the role of Telomeres?

A

Repetitive Sequences at chromosome ends that protect the chromsome.

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12
Q

What are the 3 main Histone Modification?

A

Acetylation
Methylation
Phosphorylation

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13
Q

What is the role of Histone Modifications?

A

They contribute to the control of gene expression via chromatin compaction.

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14
Q

Histone modification is a target for therapy, give an example of a drug and a condition which it treats.

A

Vorinostat
Romidepsin

In T-cell lymphoma

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15
Q

What enzyme facilitates DNA Methylation?

A

DNA Methyltransferase

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16
Q

What is the role of DNA methylation?

A

Transcriptional Repression

17
Q

What is Chromothripsis?

A

Chromosome shredding and random re-assembly.