Familial Cancer Flashcards

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1
Q

Which enzyme is responsible for transcription of DNA to mRNA?

A

RNA polymerase

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2
Q

Which process follows transcription to remove introns from mRNA?

A

Splicing

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3
Q

What is an example of a splicing disorder?

A

Myotonic dystrophy

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4
Q

Where does translation occur?

A

Ribosome

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5
Q

What are mRNA and tRNA also known as at the ribosome?

A

Codons (mRNA) and anticodons (tRNA)

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6
Q

What does translation synthesise?

A

Polypeptide chain of amino acids

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7
Q

What are exons?

A

“expressed” sequences that code for proteins

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8
Q

What are introns?

A

“intervening” sequences that make up 98% DNA

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9
Q

List the 4 abilities a cell has to gain to become cancerous.

A
  1. Proliferative signalling
  2. Avoidance of apoptosis
  3. Bypassing replicative senescence
  4. Insensitivity to anti-growth signalling
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10
Q

What is replicative senescence?

A

Telomere mechanism at tips of chromosome that when too short will stop any further cell division

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11
Q

What is the normal function of a TSG?

A

Inhibit progression through cell cycle
Promote apoptosis
Act as stability genes

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12
Q

What are some TSGs?

A

Retinoblastoma (RB)
TP53
NF1
APC

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13
Q

How does mutation affect TSG function?

A

LOSS of function of protein

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14
Q

How many gene copies must become mutated for the tumourigenic effect, and what is this known as?

A

2 copies - known as the “two hit hypothesis”

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15
Q

What is the pattern of inheritance of single gene TSG mutations?

A

Autosomal dominant

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16
Q

What is the normal function of proto-oncogenes?

A

Stimulate cell cycle

17
Q

How does mutation affect proto-oncogene function?

A

GAIN of function of protein - activation to “oncogene”

18
Q

How many gene copies must mutate to get tumourigenic effect?

A

1

19
Q

What are the 2 classes of cancer?

A

Sporadic

Familial

20
Q

Which is more common?

A

Sporadic

21
Q

Which is earlier in onset?

A

Familial

22
Q

Which likely results in a single (as opposed to multiple) primary tumours?

A

Sporadic

23
Q

What is normal function of a stability gene?

A

Minimise genetic alterations (e.g. BRCA1/2)

24
Q

Which families are considered high risk for breast cancer?

A

4 cases of breast cancer in individuals under 60yrs

25
Q

What are the risks if BRCA1 mutation is present?

A

Breast cancer before age 70

26
Q

What are the risks if BRCA2 mutation is present?

A

Breast cancer before age 70
Ovarian cancer
Male breast cancer

27
Q

What is the normal function of BRCA1/2 genes?

A

Code for proteins that function in DNA repair by homologous recombination of double-stranded breaks

28
Q

What preventative measures are taken for breast cancer?

A

Breast exams
Screening (mammography/MRI)
Prophylactic mastectomies/oophorectomies (for BRCA1/2 carriers only)

29
Q

Which genes are associated with ovarian cancer?

A

BRCA1/2

MLH1/MSH2 - also associated with HNPCC

30
Q

Which gene is associated with colon cancer?

A

HNPCC (hereditary non-polyposis colon cancer)

31
Q

Which gender are at greater risk of colon cancer?

A

Males

32
Q

What screening is offered for persons at high risk of colon cancer?

A

2-yearly colonoscopy from age 25 / upper GI endoscopy from age 50

33
Q

Which colon cancer predisposition syndrome results in annual bowel screening from age 11 for high risk patients?

A

Familial adenomatous polyposis (FAP)

34
Q

Which colon cancer predisposition syndrome is unusual in that it shows autosomal recessive inheritance?

A

MYH-associated polyposis (MAP)

35
Q

Which rare cancer predisposition syndrome is caused by mutated TP53 master control gene?

A

Li Fraumeni Syndrome