Mutations and Cancer Flashcards

1
Q

Germaine mutation

A

a change in the DNA sequence that can be inherited from either parent

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2
Q

somatic mutation

A
  • a change in the DNA sequence in cells other than sperm or egg
  • the mutation is present in the cancer cell and its offspring, but not in the patient’s healthy cells
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3
Q

What are the most common mutations in cancer?

A

somatic mutations

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4
Q

What precent of cancer cases have a clear hereditary component?

A

5-10%

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5
Q

What types of changes are required for cancer to develop?

A

somatic changes

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6
Q

mutations & cancer genes

A
  • cancer genes are causally implicated in oncogenesis
  • mutations in cancer genes can occur somatically or can be inherited
  • mutations in some cancer genes can be inherited from parents, in which case they are present in every cell of the body
  • such people are at a higher risk of developing cancer
  • somatic mutations can occur in any of the cells of the body except the germ cells and therefore are not passed on to children
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7
Q

Rb

A
  • a classic tumour suppressor

- binds to a protein called E2F1

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8
Q

E2F1

A

-initiates the G1/S cell cycle transition

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9
Q

Rb and E2F1

A
  • Rb binds to a protein called E2F1

- When bound to Rb, E2F1 can’t function

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10
Q

HER2/neu

A
  • an oncogene

- a growth factor receptor

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11
Q

How is HER2/neu associated with breast cancer?

A
  • 25-30% of breast cancers over-express HER2/neu
  • the over expression of HER2/neu leads to resistance of anti-growth signals
  • Herceptin can be used to treat cancer with this mutation as it blocks the receptor and stops the tumour growth
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12
Q

mutagens

A

-are chemical compounds or forms of radiation (such as ultraviolet (UV) light or X-rays) that cause irreversible and heritable changes (mutations) in the cellular genetic material, deoxyribonucleic acid (DNA)

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13
Q

How do viruses lead to cancer and what is an example?

A
  • insertional mutagenesis

- Human Papilloma virus (HPV) is associated with cervical cancer

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14
Q

How do chemicals lead to cancer and what is an example?

A
  • DNA adducts

- Benzo[a]pyrene can cause lung cancer

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15
Q

How do UV and ionizing radiation cause mutagens?

A
  • single and double strand DNA breaks

- UV and ionizing radiation can cause skin cancer

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16
Q

What is an example of bacteria that can lead to cancer?

A

Helicobacter Pylori causes mutations that lead to gastric cancer

17
Q

What is a common gas in Manitoba that has been linked to cancer?

A

radon gas

18
Q

ultraviolet radiation

A
  • natural radiation is known to be the primary cause of skin cancer
19
Q

what is the least common type of skin cancer

A

malignant melanomas

20
Q

most common type mutations in skin cancer

A

thymine dimers

21
Q

What are UV-light-induced mutations

A

substitution C>T ot G>A

- lead to the formation of covalent bonds between two adjacent pyridines in the DNA molecule

22
Q

mutations in BRAF and p53

A
  • mutation in BRAF (oncogene), can lead to aggressive cell growth and therefore the development of malignant melanoma
  • a mutation in p53 (tumour suppressor) causes precancerous lesions
23
Q

tobacco smoke

A
  • contains more than 60 mutagens that bind and chemically modify DNA
  • tobacco smoke have carcinogens polycyclic aromatic hydrocarbons like bento[a]pyrene and the nicotine-derived nitrosamines
  • these will cause G-T mutations
24
Q

carcinogens

A

a exposure that cause mutations in the DNA that is associated with cancer

25
Q

hyperplasia

A

growth in the lung

26
Q

dysplasia

A

ruptured tissue

27
Q

KRAS

A
  • is a genetic marker that can be used to screen for cancer
  • gene codes for a signalling molecules that regulates the cell cycle
  • mutations in KRAS are present in many cancer, including pancreatic and colon cancer
28
Q

substitution

A

a nucleotide base is substituted with another base

29
Q

deletion

A

a nucleotide base or bases are removed from the sequence

30
Q

insertion

A

a set of nucleotide base or bases are added into a sequence

31
Q

inversion

A

a set of nucleotide is switched or inverted

32
Q

duplication

A

a set of nucleotide in the sequence is repeated

33
Q

missense mutations

A
  • changes the amino acid

- changes the effect or alters the function of the protein

34
Q

silent mutations

A
  • do not change the amino acid

- do not change the effect or alter the function of the protein

35
Q

What are common mutations in KRAS?

A

amino acid 12, 13, 61, 146

36
Q

What is the common mutations in KRAS?

A
  • amino acid 12

- important in KRAS binding and recognizes the binding of GTP

37
Q

KRAS gene

A
  • helps to transmit external growth signals to the cell nucleus driving normal cell growth
  • is activated when its binds to GTP
  • is inactivated or “switched off” when GTP is hydrolyses to GDP
  • if the KRAS is not recognizing the presence of GTP, and doesn’t switch off, then KRAS will be constantly sending the signal for the cell to keep dividing