amplification of molecular oncogenesis Flashcards

1
Q

role of tumor suppressor gene

A

reduce genomic instability

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2
Q

role of oncogenes

A

increase genomic instability

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3
Q

what test detects micro satellite instability for mutations in tumor suppressors

A

PCR

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4
Q

two hit hypothesis

A

both copies of tumor supressor must be inactivated for a cancer cell to benefit

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5
Q

what is the global functioning test for oncogene activation

A

PCR or sequencing

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6
Q

how many genes need to be activated for an oncogene to be activated

A

1

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7
Q

what role does p53 have

A

cell cycle arrest

apoptosis pathways

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8
Q

how are most p53 muated

A

point mutation in DNA binding region

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9
Q

another functional loss of p54

A

protein functional deficiency

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10
Q

how does HPV degrade p53? other signaling protiens

A

E6 protein of HPV binds to p53

also binds RB ( increase G1–> S phase transition)

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11
Q

Li-Fraumeni syndrome

A

hereditary loss of p53

-1 inherited inactivating mutation

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12
Q

what is the role of tumor suppressor gene APC

A

down regulate B-catenin

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13
Q

familial adenomatous polyposis

A

one defective germ line of APC

colon polyps

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14
Q

what is the function of B-catenin oncogene

A

enters nucleus and up-regulates cell cycle genes

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15
Q

what do B-catenins attach

A

E-cadherin

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16
Q

what is E-cadherin

A

cell surface protein for intercellular adhesion

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17
Q

what happens when E-cadherin is defected

A

frees B-catenin

APC can handle B-catenin unless WNT is activated

18
Q

INK4a/ARF

A

familial melanoma

19
Q

TGF-beta pathway

A

eg pancreas

20
Q

PTEN

A

cowden syndrome ( increase risk of breast cancer)

21
Q

NF1

A

neurofibromatosis type 1

22
Q

NF2

A

neurofibromatosis type 2

23
Q

VHL

A

non Hippel-Lindau syndrome

24
Q

WT1/WT2

A

Wilms tumor

25
Q

PTCH

A

nevoid basal cell carcinoma syndrome

26
Q

tyrosine kinase receptors are what kind of protein

A

transmembrane proteins

27
Q

role of RET gene

A

cell survivial in neuroendocrine cells

28
Q

mutation in RET causes

A

MEN2A
MEN2B
familial medullary carcinoma
sporadic medullary carcinoma of thyroid

29
Q

how do you treat gastrointestinal stromal tumor ( GIST)

A

tyrosine kinase inhibitor

Imatinib

30
Q

BCR-ABL fusion gene occurs from

A

philadelphia chromosome

31
Q

what are the 2 breakpoints for BCR-ABL

A

chornic myleogenous leukemia

acute lymphocytic leukemia

32
Q

what drug treats BCR-ABL

A

Imatinib

33
Q

philadelphia chromosome works on what chromosome numbers

A

9

22

34
Q

what is overexpressed in breast cancer

A

ERBB2 ( Her-2/neu)

35
Q

where is EGFR oncogene found

A

lung

colon

36
Q

what drug targets EGFR

A

erlotinib

37
Q

KRAS has mutation where

A

glycine residues at codons 12 and 13

38
Q

NRAS HRAS mutates where

A

codon 61

39
Q

BRAF is muation where

A

V600E

40
Q

BRAF is common where

A

thyroid
melanoma
colon

41
Q

P13KCA

A

New!

breast, lung, colon, gynecologic