Mutations and Cancer Flashcards

(37 cards)

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?

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
hyperplasia
growth in the lung
26
dysplasia
ruptured tissue
27
KRAS
- 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
substitution
a nucleotide base is substituted with another base
29
deletion
a nucleotide base or bases are removed from the sequence
30
insertion
a set of nucleotide base or bases are added into a sequence
31
inversion
a set of nucleotide is switched or inverted
32
duplication
a set of nucleotide in the sequence is repeated
33
missense mutations
- changes the amino acid | - changes the effect or alters the function of the protein
34
silent mutations
- do not change the amino acid | - do not change the effect or alter the function of the protein
35
What are common mutations in KRAS?
amino acid 12, 13, 61, 146
36
What is the common mutations in KRAS?
- amino acid 12 | - important in KRAS binding and recognizes the binding of GTP
37
KRAS gene
- 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