Cancer Genetics Flashcards

1
Q

Why do cancer cells behave in an abnormal manner?

A

Changes in the DNA sequences of key genes which are known as cancer gene
All cancers are genetic diseases

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2
Q

Give an example of how genetic defects cause cancer?

A

Colon cancer begins with a defect in a tumour suppressor gene that allows excessive hyperproliferation

Proliferating cells acquire additional mutations involving DNA repair genes, other tumour suppressor genes and growth related genes

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3
Q

What are some different types of cancer?

A

Carcinomas
Sarcomas
Lymphomas
Leukemias

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4
Q

What can cause cancer?

A

Environment
Viruses (exogenous factor)
Hereditary

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5
Q

What are the six hallmarks of cancer?

A
Self-sufficiency in growth signals
Insensitivity to anti-growth signals
Evading apoptosis 
Limitless replicative potential
Sustained angiogenesis 
Tissue invasion and metastasis
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6
Q

What are the updated hallmarks of cancer?

A

Genome instability and mutation
Deregulation cellular energetics
Avoiding immune destruction
Tumor proliferating inflammation

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7
Q

What is a germline mutation?

A

Gene change in body’s reproductive cells

Hereditary

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8
Q

What is a somatic mutation?

A

Occur during mitosis anywhere in the body

Non-heritable

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9
Q

What can identify cancer germline mutations?

A

Positional cloning linkage studies

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10
Q

What are the different types of mutation?

A
Deletions
Duplications
Inversions
Translocations
Single base substitutions 
Chromosome instability
Aneuploidy
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11
Q

What can identify cancer somatic mutations?

A

In vitro studies

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12
Q

How can excessive sun exposure cause cancer?

A

DNA damage from UV radiation leads to the formation of covalent bonds between two adjacent pyrimidines
C>T

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13
Q

What is a passenger mutation?

A

Mutation that can be tolerated by somatic cells

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14
Q

What is driver mutation?

A

Few mutations can confer a selective advantage and are recurrently found in homozygous state

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15
Q

Describe the trend show between cancer rates and frequency of division

A

The life time risk of developing cancer in a particular tissue is correlated with how often stem cells is that tissue divide

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16
Q

Why is cancer not simply due to ‘bad luck’?

A

100% of cancers are genetic

Terrible message, suggest lifestyle factors are not to blame

17
Q

What is an oncogene?

A

A mutation in these genes cause the cell to become oncogenic
Results in cancer
One mutation is sufficient i.e. dominant

18
Q

How are oncogenes activated?

A

Chromosome rearrangements, gene duplication or mutation

19
Q

What is RAS?

A

Small protein present on plasma membrane

Activates many kinases affecting cellular processes

20
Q

What happens to RAS that causes cancer?

A

A valine substitution

Cells continually proliferate

21
Q

True or false, inherited mutations in oncogenes are very common

A

False

22
Q

Give examples of some hereditary cancers?

A

Hereditary gastrointestinal stromal tumors
Hereditary papillary renal cancer
Malignant melanoma

23
Q

What do tumour suppressor genes do?

A

Act to break excessive proliferation
Cause apoptosis if there is too many DNA defects
Recessive
Loss of function

24
Q

Name a form of cancer caused by mutation in a tumour suppressor gene?

A

Retinoblastoma

25
Q

What is the two hit hypothesis?

A
  1. Inherited mutation

2. Loss of the good copy in the gene pair. that can occur somatically causing cancer

26
Q

What is p53?

A

Tumour suppressor protein

Important in regulation of the cell cycle

27
Q

What is Li-Fraumeni syndrome?

A

Development of tumours in early adulthood

Inherit only one functional copy of the TP53 gene

28
Q

What are DNA repair genes?

A

Code for proteins who correct errors in DNA prior to cell division

29
Q

What is the role of BRCA1 and BRCA2?

A

DNA repair

30
Q

Give an example of a cancer caused by a virus?

A

Human papilloma virus