Pathology - Tumor Supressor Genes Flashcards

1
Q

What are the main tumour supressor genes?

A

RB
P53
APC
NF-1
BRCA 1 & 2

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2
Q

What is two hit hypothesis ?

A

Both alleles of TSG needs to be mutated to be turned off

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3
Q

How do you differentiate between sporadic and familial retinoblastoma ?

A

Sporadic - single eye, late onset
FAMILIAL - both eye, early onset

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4
Q

Which TSG is the governor of proliferation?

A

RB

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5
Q

When is RB gene inactivated ?

A

When phosphorylated by CDK-G1

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6
Q

How does RB gene block transcription ?

A

By binding with E2F

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7
Q

What factors activate and inactive RB

A

GROWTH FACTORS - INACTIVATES
GROWTH INHIBITORS - ACTIVATE

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8
Q

Which gene is the guardian of the Genome ?

A

TP53

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9
Q

What protien is bind to P53?

A

MDM2

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10
Q

What does MDM2 does to P53 ?

A

Actively degrades p53 in healthy cells

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11
Q

What happens to MDM2 in mutated cells or damaged cells ?

A

Increase in P14
MDM2 unbinds p53
Increases in P21

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12
Q

Which TSG causes Li fraumeni syndrome ?

A

p53

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13
Q

Which gene is called to gatekeeper of colonic neoplasia?

A

APC

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14
Q

What disease does APC mutation cause ?

A

Familial Adenomatous Polyposis (FAP)

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15
Q

What is the indication of colon cancer related to Polyps ?

A

1000 of Polyps = 100% colon cancer

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16
Q

What does APC do in a cell ?

A

Actively degrades Beta Catenin

17
Q

What does APC do in a healthy cell ?

A

APC is inactive
APC forms a multicomplex with B-catenin
Increases transcription

18
Q

What is the function of TSG Neurofibromin (NF-1)?

A

INACTIVATES RAS
INCREASES GAP

19
Q

What causes Neurofibromatis type 1?

A

Mutation in NF-1

20
Q

What does mutations in BRACA 1 AND 2 INDICATE ?

A

BREAST CANCER

21
Q

What is the function of TGF-B?

A

GROWTH INHIBITON

22
Q

What are the chromosomes on some important TSG?

A

RB-13q
P53-17q
BRACA 1 -17q
BRACA 2-13q
APC- 5q