CANCER GENETICS Flashcards

1
Q

what are the influential factors upon cell mass?

A

proliferation, differentiation, cell contacts, extracellular matrix, blood supply, cell death, immune attack cancer cells

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2
Q

what does the control of normal cell growth require?

A

Requires growth factors to signal the cell to enter the cell cycle

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3
Q

how does the cell cycle ensure cell growth?

A

has internal check points that make sure DNA replication and mitosis are going ahead without errors

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4
Q

what happens if errors are detected at check points?

A

the cell cycle is stopped, & the damage/error is repaired

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5
Q

How do cancer cells arise?

A

Cell growth is usually a highly regulated process

When derailed, new cells are produced in an uncontrolled manner

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6
Q

what are the cell masses called?

A

tumours (cancerous) or neoplasms (new growth)

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7
Q

what is transformation?

A

The process of changes within a cell that lead to a neoplasm

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8
Q

what are benign neoplasms?

A

restricted to one ‘clump’ of cells – not cancerous – does not spread

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9
Q

what are metastatic neoplasms?

A

rare – primary cancer is not found - spreads

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10
Q

what are Familial cancers?

A

Inherited in families – high penetrance genes

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11
Q

what are Sporadic cancers?

A

Acquired in one’s life-time - population – combination of low penetrance genes

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12
Q

what are the causes of genetic damage that lead to cancer?

A

Cancer cells are clonal
Some chromosomal aberrations are associated with cancer
Exposure to chemicals that damage DNA increases the incidence of cancer
Infection with an oncovirus can lead to cancer

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13
Q

what is carcinogenesis?

A

the process of inducing cancer

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14
Q

how do cells get properties of cancer?

A

A population of cells acquire a series of genomic mutations

These mutations give the cells the hallmarks of cancer

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15
Q

what 2 sorts of genes do the hallmarks of cancer arise in?

A

Oncogenes

Tumour-suppressor genes

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16
Q

what are the different types of small scale mutation?

A

point
insertion
deletion

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17
Q

what are point mutation?

A

silent, missense, nonsense

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18
Q

what are the different types of large-scale mutations?

A

amplification, deletion, translocation, inversion, loss of heterozygosity

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19
Q

what are oncogenes?

A

only 1 genetic change in proto-oncogene

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20
Q

what are oncogenes dominant to?

A

Dominant to WT (GAIN of function Constitutive, excessive or inappropriate activity

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21
Q

what do oncogenes stimulate?

A

cell growth in response to growth factors

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22
Q

what are tumour suppressors?

A

2 genetic/epigenetic changes (both alleles)

23
Q

what are tumour suppressors recessive to?

A

Recessive function to WT (LOSS of function)

24
Q

what do tumour suppressors repress?

A

Repress aberrant cell growth/entry into cell cycle

25
Q

what are Proto-oncogenes?

A

genes which encode for components of cell signalling pathways which promote cell growth and division

26
Q

what happens when Proto-oncogenes become mutated?

A

they become oncogenes

27
Q

what do oncogenes do?

A

`drive’ the cell to divide (hallmark 1)

28
Q

what do oncogenes trigger?

A

Oncogenes trigger cell transformation

29
Q

what are viral oncogenes?

A

essentially copies of a group of genes found in humans (porto-oncogenes)

30
Q

what do Proto-oncogenes control?

A

control key processes in cell growth

31
Q

what cell growth processes do Proto-oncogenes control?

A

growth factors, transcription factors, cyclins

32
Q

how do Proto-oncogenes become activated oncogenes?

A

via gain of function events

33
Q

what are gain of function events?

A

Activation by amplification, mutation, chromosomal rearrangement

34
Q

give examples of oncogenes

A

her 2
ras
VEGF

35
Q

what is the normal function of tumour-suppressor genes?

A

to inhibit cell proliferation and in some cases, trigger apoptosis

36
Q

where do tumour-suppressor genes work?

A

at cell cycle check points

37
Q

when do tumour suppressor genes stop the cell cycle?

A

If DNA damage has occurred, or mitosis has gone wrong

38
Q

what happens once the cell cycle has been stopped?

A

cell `rests’ and repair is made to DNA or chromosomes

39
Q

what happens if the cell can’t be repaired?

A

cell undergoes apoptosis

40
Q

what do tumour suppressors prevent?

A

prevent inappropriate entry into cell cycle

41
Q

what do tumour suppressors promote?

A

cell death of cancer cells by apoptosis

42
Q

what do tumour suppressors maintain?

A

genome stability

43
Q

what do tumour suppressors control?

A

the micro-environment around the cells

44
Q

what are tumour suppressors classified as?

A

Gatekeeper genes
Caretaker genes
Landscaper genes

45
Q

what do Gatekeeper genes do?

A

regulate cell division or growth

46
Q

what do Caretaker genes do?

A

DNA repair or the DNA damage response

47
Q

what do Landscaper genes do?

A

modulate the micro-environment in which tumour cells grow

48
Q

are mutations in tumour suppressor genes dominant or recessive?

A

generally recessive

49
Q

why are tumour suppressor genes recessive?

A

both alleles must be mutated (inactive) in order for the gene to stop functioning

50
Q

give examples of tumour-suppressor genes

A

Rb retinoblastoma gene
p53 (TP53)
BCRA1 and BRCA2

51
Q

why do viruses cause cancer?

A

they enhance proliferation and predispose cells to cancer, but are NOT sufficient to induce complete transformation

52
Q

what is the relationship between cancer risk and age?

A

as age increases the number of cancer cases increases

53
Q

what is the multi-stage model (‘Vogelgram’)?

A
external growth signals
anti-growth signals
apoptosis
Immortality
angiogenesis
metastatic