Genetics - Cancer Flashcards

1
Q

What is cancer?

A

it is a condition where cells in a specific part of the body grow and reproduce uncontrollably

These cells can invade and destroy surrounding healthy tissue, including organs

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2
Q

What are the five features of normal cells?

A

Uniform

There are few cells going through the cell cycle - majority in a stable state

Oncogene expression is rare

Tumour suppressor genes are present

These cells secrete growth factors intermittently and in a co-ordinated manner

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3
Q

What are the five features of cancerous cells?

A

Not uniform

There are lots of cells undergoing cell division - majority are in an unstable state

Oncogene expression is frequent

Tumour suppressor gene function is lost

These cells secrete growth factors at an increased rate

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4
Q

What are the three steps of cancer formation?

A

Initiation

Promotion

Progression

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5
Q

What two cancer formation steps are preclinical?

A

Initiation

Promotion

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6
Q

What cancer formation step is clinical?

A

Progression

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7
Q

What is the initiation stage of cancer?

A

This is when a mutation occurs within a single cell that results in its ability to no longer respond to normal cell signals

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8
Q

What are the three mechanisms of initiation?

A

Chemical

Physical

Viral

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9
Q

What is the promotion stage of cancer?

A

This when the mutated cell divides to form a number of other abnormal cells

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10
Q

What are the two mechanisms of promotion?

A

Growth factor secretion

Oncogene expression

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11
Q

What is the progression stage of cancer?

A

It is when the tumour invades local tissue and then metastasises to other parts within the body

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12
Q

What are the three enzymes involved in metastasis by destroying cell adhesions in the extracellular matrix so that the cancerous cells can move between them?

A

Matrix metalloproteinases

Plasmin

Cathepsin

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13
Q

What are the three enzymes involved in metastasis by allowing cancerous cells to adhere to the cells of another organ?

A

Cadherins

Integrins

CD44

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14
Q

What process occurs after metastasis?

A

Angiogenesis

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15
Q

What is angiogenesis?

A

This is the formation of new blood vessels

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16
Q

What are proto-oncogenes?

A

They are the normal genes that codes for proteins that regulate cell growth and differentiation

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17
Q

What are oncogenes?

A

They mutational proto-oncogenes that accelerate cell devision

They are therefore cancer promoting genes

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18
Q

What part of the cell cycle are oncogenes involved in?

A

G1

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19
Q

What does a ‘gain in function’ of oncogenes result in?

A

Cancer

20
Q

How many oncogene alleles must be affected before cancer occurs?

A

One

21
Q

What are the three mechanisms in which proto-oncogenes become oncogenes?

A

Mutation

Chromosomal translocation

Increased protein expression

22
Q

What testing method is used to screen for mutated oncogenes?

A

PCR

23
Q

What cancer/condition is associated with the ABL gene?

A

Chronic myeloid leukaemia

24
Q

What cancer/condition is associated with the c-MYC gene?

A

Burkitt’s lymphoma

25
Q

What cancer/condition is associated with the n-MYC gene?

A

Neuroblastoma

26
Q

What cancer/condition is associated with the BCL-1 gene?

A

Follicular lymphoma

27
Q

What cancer/condition is associated with the RET gene?

A

Multiple endocrine neoplasia

28
Q

What cancer/condition is associated with the RAS gene?

A

Pancreatic cancer

29
Q

What cancer/condition is associated with the HER2 gene?

A

Breast cancer

Ovarian cancer

30
Q

What are tumour suppressor genes?

A

They are genes which normally control the cell cycle

31
Q

What part of the cell cycle are tumour suppressor genes involved in?

A

S phase

32
Q

What occurs when there is a ‘loss of function’ in tumour suppressor genes?

A

Cancer

33
Q

How many tumour suppressor alleles must be affected before cancer occurs?

A

Both alleles

34
Q

What chromosome is p53 located on?

A

17p

35
Q

What is the function of p53?

A

It is thought to play a crucial role in the cell cycle, preventing entry into the S phase until DNA has been checked and repaired

36
Q

What cancer/condition is associated with p53 mutations?

A

Li-Fraumeni syndrome

37
Q

What is Li-Fraumeni syndrome?

A

It is a rare disorder that significantly increases the risk of developing several types of cancer

38
Q

What five cancers are most commonly associated with Li-Fraumeni syndrome?

A

Breast cancer

Colon cancer

Lung cancer

Sarcoma

Leukaemia

39
Q

What cancer/condition is associated with APC mutations?

A

Colorectal cancer

40
Q

What cancer/condition is associated with BRAC1 & 2 mutations?

A

Breast cancer

Ovarian cancer

41
Q

What cancer/condition is associated with NF1 mutations?

A

Neurofibromatosis

42
Q

What cancer/condition is associated with Rb mutations?

A

Retinoblastoma

43
Q

What cancer/condition is associated with WT1 mutations?

A

Wilm’s tumour

44
Q

What cancer/condition is associated with MTS-1 and p16 mutations?

A

Melanoma

45
Q

What are DNA damage response genes?

A

These are the genes that are involved in coding for one of the key enzymes involved in repairing DNA when it is damaged

46
Q

What part of the cell cycle are DNA damage response genes involved in?

A

S phase

47
Q

What occurs when there is a ‘loss of function’ in DNA damage response genes?

A

Cancer