genetic predisposition to cancer Flashcards

1
Q

genetic processes associated with cancer

A
  • the activation of oncogenes
  • the deactivation of tumour suppressor genes
  • the abnormal working of of DNA damage-response genes
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2
Q

proto-oncogene

A

normal gene that codes for proteins to rgeulate cell growth and differentiation

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3
Q

what changes a proto-oncogene into an oncogene?

A

mutation

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4
Q

how many ‘hits’ are required for oncogenes to cause cancer

A

only one mutation in the gene on one chromosome is required

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5
Q

how many ‘hits’ are required for tumour supressor genes to cause cancer?

A

2 mutations are required, one in each of the genes on each chromosome

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6
Q

what are DNA damage-response genes?

A

The repair mechanics for DNA

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7
Q

how many ‘hits’ are required to cause cancers due to DNA damage-response genes ?

A

two hits are required, one in each copy of the gene, this speeds the accumulation of other mutations in critical areas

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8
Q

what is miss match repair?

A

occurs when there is a base pair miss match, eg. T is paired with C in DNA replication. Repair mechanisms are used to fix this abnormality.

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9
Q

what happens if there is defective miss match repair mechanisms?

A

risk of cancer forming

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10
Q

what can microsatellite instability tell us?

A

that there is a problem with miss match repair

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11
Q

dysplastic tumour

A

A tumour that is benign but could progress to malignancy

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12
Q

example of oncogene

A

RET

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13
Q

example of tumour supressor gene

A
  • BRCA1 and BRCA 2

- RB

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14
Q

what does a loss of function in BRCA 1 or BRCA2 cause?

A

breast cancer

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15
Q

what does a loss of function in RB gene cause?

A

retinoblastoma

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16
Q

what does activation of the RET gene cause?

A

MEN2 multiple endocrine neoplasia

17
Q

examples of DNA repair genes and what do they cause?

A

MLH1, MSH2, MSH6, PMS1, PMS2

hereditary non-polyposis colon cancer

18
Q

what is a de novo mutation?

A

a mutation that occurs in germ cell of a parent, there is no family history of the cancer syndrome

19
Q

main risk factors foe breast cancer

A
  • ageing
  • family history
  • dietary factors eg. alcohol
  • lack of excersise
20
Q

example of autosomal recessive syndromes

A

MYH polyposis

21
Q

risk factors for colorectal cancer

A
  • ageing
  • personal history of colorectal cancer or adenomas
  • high fat, low-fibre diet
  • inflammatory bowel disease
  • family history of CRC
22
Q

what is predictive gene testing?

A

test carried out to determine a patient’s risk of developing a cancer