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CMOD Block 2 > Cancer Mutations and Meds > Flashcards

Cancer Mutations and Meds Flashcards

1
Q

HER2 is commonly _____ in ______ cancer.

A

over-expressed in breast cancer

marker of a poor prognosis

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2
Q

HER2 is targeted with what 2 therapies?

A

Trastuzumab

TDM-1 (mAb with chemo)

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3
Q

c-Kit is commonly _____ in ______.

A

constitutively active in GIST

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4
Q

Mutated c-Kit is targeted by what drug?

A

Imatinib

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5
Q

EGFR is commonly ____ or ____ in what 2 types of cancer?

A

overexpressed or mutated to be constitutively active in adenocarcinomas of the lung AND head/neck cancers

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6
Q

EGFR in LUNG CANCER is targeted using what drug?

A

Erlotinib

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7
Q

EGFR in Head and Neck cancer is targeted using what drug?

A

Cetuximab (external blockage!!)

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8
Q

KRas is commonly ____ in what 3 cancers?

A

mutated to be constitutively active in colon, pancreatic, and small cell lung carcinoma

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9
Q

NF-1 is an example of what?

A 
a GAP (GTPase activating protein) that helps inactivate Ras(GTP) to stop the tyrosine kinase signaling cascade
(tumor supressor gene)
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10
Q

NF-1 is _____ in _____.

A 
GERMLINE mutated (disabled) in neurofibromatosis type 1
OR
TUMORAL mutated (disabled) in neurofibromas
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11
Q

B-Raf V600 is commonly ____ in ____.

A

mutated to be overproduced in melanomas

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12
Q

B-Raf V600 mutation is treated using what drug?

A

Vemurafenib

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13
Q

EML4-ALK is commonly ___ (with what effect) in ____.

A

Rearranged to make Ras constitutively active in NSCLC (adenocarcinoma)

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14
Q

Cancer with EML4-ALK is treated using what drug?

A

Crizotinib

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15
Q

BRC-ABL is a reciprocal translocation of what 2 chromosomes?

A

9 (ABL) and 22 (BCR)

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16
Q

A BCR-ABL translocation (Philadelphia chromosome) is seen in what type of cancer?

A

CML

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17
Q

At what point in the signaling pathway does BRC-ABL work?

A

It stimulates activation of everything downstream of Ras

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18
Q

How do you treat someone with a BCR-ABL translocation?

A

Imatinib mesylate (Gleevec)

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19
Q

TMPRSS-ETS is a ____ seen in ____. What effect does it have?

A

Fusion gene seen in prostate cancers that leads to cell survival (mTOR pathway)

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20
Q

MEN1 is ____ in ____. What effect does it have?

A

upregulated in multiple endocrine neoplasia syndrome that stimulates mTOR for cell survival

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21
Q

Src is ___ in ____. What effect does it have?

A

overexpressed due to rearrangement in colon cancer (leading to constant signaling through tyrosine kinase pathway)

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22
Q

What is the role of MYC?

A

activates CDS, represses CDKIs, upregulates genes for the Warburg effect

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23
Q

What are the two possibilities for MYC dysregulation in cancer? What cancers are these seen in?

A

8,14 translocation in Burkitt’s Lymphoma

Amplification of NMYC (double minutes or homologously staining region) in Neuroblastomas (children, NOT in brain)

24
Q

HMGA2 is ____ in _____.

A

Rearranged (so that the 3’-UTR is replaced with another gene that removes miRNA that was repressing it) in Pleomorphic Parotid Adenoma

25
Q

What are the “big 4” mutations?

A

Cyclin D
CDK4
CDKN2A (p16)
Rb

26
Q

In Breast, Esophagus, liver, and other cancers, Cyclin D is ______.

A

amplified or overproduced due to a rearrangement

27
Q

What types of cancers do you find CDK4 amplified?

A

melanomas
Sarcomas
glioblastomas

28
Q

To lead to cancer, would CDKN2A be suppressed or activated?

A

deleted/inactivated (because this is a CDKI)

29
Q

In what cancers do you see tumoral CDKN2A mutations?

A

pancreatic and glioblastomas (also esophageal and NSCLC)

30
Q

In what cancers do you see germline CDKN2A mutations?

A

25% of melanomas

31
Q

Hypophosphorylated Rb does what?

A

Binds strongly to E2F, preventing it from going to the nucleus and stimulating transcription of Cyclin E (to push cell over G1/S checkpoint)

32
Q

Hyperphosphorylated Rb does what?

A

Releases E2F which allows cell to progress thorugh the G1/S checkpoint (because Cyclin E is being transcribed)

33
Q

A germline mutation in Rb leads to what?

A

Retinoblastoma (can be bilateral) and osteosarcoma ONLY if second hit occurs

34
Q

p53 is usually in very low concentrations. What two methods break down p53?

A

MDM2 and HPV E6 oncoprotein

35
Q

What does p53 do if it senses cell damage?

A

Tells p21 to prevent cyclin D/CDK phosphorylation of Rb (so cell cycle will halt in G1
OR
stimulates apoptosis by activating Bax

36
Q

BCL2 is commonly ___ in ____.

A

14.18 rearrangement (so overexpressed) in follicular lymphomas

37
Q

APC is commonly ____ in _____.

A

Mutated in 100% colon cancer with familial polyposis and 70% of sporatic colon cancers

38
Q

What is the effect of an APC mutation?

A

cannot break-down Beta-cetenin, so it goes to the nucleus and stimulates transcription of TWIST and SLUG (which represses E-cadherin) and Cyclin D1 and MYC (growth promoters)

39
Q

NF2 produces a protein called what?

A

merlin

40
Q

What is the role of Merlin?

A

facilitates E-cadherin mediated contact inhibition

41
Q

What happens if you have homologous loss of NF2?

A

neurofibromatosis type II

42
Q

What is the effect of a mutated VHL?

A

cannot break down HIF-1alpha, so it is free to go to nucleus and upregulate transcription of VEGF which leads to angiogenesis

43
Q

VHL mutation is called ____ and leads to _____.

A

Von Hippel-Lindau disease that leads to renal cell carcinoma

44
Q

How do you treat VHL disease?

A

sunitinib (prevents VEGF signaling through RTK)

45
Q

VEGF is in VERY high levels in what type of cancer?

A

glioblastomas

46
Q

What drug is given to block VEGF receptors?

A

Bevacizumab

47
Q

What is present in some breast cancer that is a good target for therapy?

A

estrogen receptor

48
Q

What drug can be used to target estrogen receptor positive breast cancer?

A

tamoxifen (also for adjuvant therapy)

49
Q

What drug is given if tamoxifen therapy fails to treat ER positive breast cancer?

A

everolimus (mTOR inhibitor)

50
Q

What is present in prostate cancer that serves as a drug target?

A

androgen receptor

51
Q

What are the multiple places you can target androgen-driven prostate cancer?

A

pituitary stimulus blockers prevent androgen synthesis
blockage AT the androgen receptor
alock DHT/AR from entering the nucleus

52
Q

What drug prevents DHT-androgen receptor from going into the nucleus?

A

enzalutamide

53
Q

Sonic Hedgehog is mutated in what type of cancer?

A

basal cell carcinoma

54
Q

What happens with a sonic hedgehog mutation?

A

PRCH is forced to release SMO so it can go to the nucleus and drive proliferation

55
Q

How do you treat a sonic hedgehog mutation?

A

vismodegib

CMOD Block 2 (11 decks)

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