18 Flashcards

1
Q

Germline mutation

A

If a mutation occurs in a cell that go on to make gametes (egg or sperm cells), the mutation can be passed on to the next generation ( e.g. in born errors of metabolism).

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2
Q

Somatic mutation

A

Somatic mutation - occur in other cells and cannot be passed on – can result in caner.

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3
Q

Somatic vs Germaine mutation

A
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4
Q

How many cells is the human body made from

A

37 trillion

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5
Q

Cell growth and cell death in cells - balance

A
  • Normally, human cells grow and divide to form new cells as the body needs them.
  • When cells grow old or become damaged, they die, and new cells take their place.
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6
Q

What is cancer?

A

Cancer is a collection of related diseases and can start almost anywhere in the body.

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7
Q

What are cancers cells? Do they respond to signals?

A

Cancer cells are cells within a tissue that longer respond to many of the signals that control cellular growth and death. Over time, these cells become increasingly resistant to the controls that maintain normal tissue — and as a result, they divide more rapidly.

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8
Q

Do cancer cells do programmed death?

A

No

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9
Q

What happens in the late stages of cancer

A

In the late stages of cancer, cells break through normal tissue boundaries and metastasize (spread) to new sites in the body

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10
Q

What underlies the development of cancer?

A

Multiple mutation

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11
Q

Cancer is the result of….

A

An accumulation of mutations

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12
Q

What are most mutations associated with?

A

DNA replication

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13
Q

The more times a cell decides, the more likely it is to…..

A

Gain a mutation

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14
Q

Why does incidence of cancer increase greatly with age

A

The more times a cell divides, the more likely it to gain a mutation

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15
Q

• Hundreds of _______ encode _____ that normally regulate cell
_____ and _______
• _________ that alter these genes in ______ cells can lead to
________

A

• Hundreds of genes encode proteins that normally regulate cell growth and division
• Mutations that alter these genes in somatic cells can lead to cancer

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16
Q

Mutations may be _____ or result of ______

A

Mutations may be spontaneous (occur by chance) or the result of exposure to a mutagen (also called carcinogen)

17
Q

Two types of genes cause cancer when mutated

A

Tumor supressor genes
Once-genes

18
Q

What do tumor suppressor genes fo?

A

E ncode proteins that normally prevent uncontrolled cell growth e.g.;
• proteins that inhibit cell division
• Prevent other mutations (DNA repair enzymes)

19
Q

What does the lack of tumor suppressor gees do

A

Lack of these genes can stimulate cell growth - i.e. recessive mutations promote cancer

20
Q

What do oncogenes result form

A

Mutations that increase gene activity

21
Q

Example of hoe oncogene and tumor supressor mutations lead to cancer

A

Chronic myeloid leukemia

22
Q

What are once-genes

A

Encode proteins that promote cell growth
e.g: Proteins that stimulate cell division
Cancer mutations increase the activity of
these genes

Dominant mutations promote cancer

23
Q

Can this cell under go cell division? Why? (Tumor suppressor genes - mutations that decrease gene activity cause cancer)

A

The cell is prevented from undergoing cell division due to inactivation of E2F transcription factor

24
Q

Can this cell undergo cell division ? Why?

A

Yes

Signal for cell division results in E2F transcription factor moving in to the nucleus

Cell divison genes can then be expressed

25
Q

What else prevents the E2F being activated? What does it do to the kinase?

A

P16 binds to kinase preventing it from phosphorylating the RB protein at the wrong time

26
Q

What are the multiple checks that prevent replication happening

A
  • p16 on the kinase
  • transcription factor E2F controlled by RB proven
27
Q

What happens here?

A

Loss of function mutation in RB gene cause activation of the E2F transcription factor

MUST HAVE MUTATION IN BOTH COPIES as recessive

28
Q

What’s happening here?

A

Loss of function mutation in p16 gene cause activation of the E2F transcription factor

29
Q

Lots of genes important for controlling when and where cells divide

A

Yes

30
Q

What is a proto-oncogene

A

A normal gene that when mutated can promote uncontrolled cell growth

31
Q
A
32
Q
A
33
Q

Cancer treatments

A

Surgery: remove cancer cells
Radiation therapy: targeted radiation to kill cancer cells
Chemotherapy: uses dugs that target dividing cells as cancer cells grow rapidly - but also affects normal cells

34
Q

Targeted therapy ;

A
  • drugs that target changes in cancer cells that allow them to grow and divide
  • BCR-ABL translocation - not present in any other cells apart from cancer cells
  • gleevac inhibits kinase activity of BCR-ABL