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CMOD Block 2 > Cancer Mutations and Meds > Flashcards

Cancer Mutations and Meds Flashcards

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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?

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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 _____.

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A

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

25
What are the "big 4" mutations?
Cyclin D CDK4 CDKN2A (p16) Rb
26
In Breast, Esophagus, liver, and other cancers, Cyclin D is ______.
amplified or overproduced due to a rearrangement
27
What types of cancers do you find CDK4 amplified?
melanomas Sarcomas glioblastomas
28
To lead to cancer, would CDKN2A be suppressed or activated?
deleted/inactivated (because this is a CDKI)
29
In what cancers do you see tumoral CDKN2A mutations?
pancreatic and glioblastomas (also esophageal and NSCLC)
30
In what cancers do you see germline CDKN2A mutations?
25% of melanomas
31
Hypophosphorylated Rb does what?
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
Hyperphosphorylated Rb does what?
Releases E2F which allows cell to progress thorugh the G1/S checkpoint (because Cyclin E is being transcribed)
33
A germline mutation in Rb leads to what?
Retinoblastoma (can be bilateral) and osteosarcoma ONLY if second hit occurs
34
p53 is usually in very low concentrations. What two methods break down p53?
MDM2 and HPV E6 oncoprotein
35
What does p53 do if it senses cell damage?
Tells p21 to prevent cyclin D/CDK phosphorylation of Rb (so cell cycle will halt in G1 OR stimulates apoptosis by activating Bax
36
BCL2 is commonly ___ in ____.
14.18 rearrangement (so overexpressed) in follicular lymphomas
37
APC is commonly ____ in _____.
Mutated in 100% colon cancer with familial polyposis and 70% of sporatic colon cancers
38
What is the effect of an APC mutation?
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
NF2 produces a protein called what?
merlin
40
What is the role of Merlin?
facilitates E-cadherin mediated contact inhibition
41
What happens if you have homologous loss of NF2?
neurofibromatosis type II
42
What is the effect of a mutated VHL?
cannot break down HIF-1alpha, so it is free to go to nucleus and upregulate transcription of VEGF which leads to angiogenesis
43
VHL mutation is called ____ and leads to _____.
Von Hippel-Lindau disease that leads to renal cell carcinoma
44
How do you treat VHL disease?
sunitinib (prevents VEGF signaling through RTK)
45
VEGF is in VERY high levels in what type of cancer?
glioblastomas
46
What drug is given to block VEGF receptors?
Bevacizumab
47
What is present in some breast cancer that is a good target for therapy?
estrogen receptor
48
What drug can be used to target estrogen receptor positive breast cancer?
tamoxifen (also for adjuvant therapy)
49
What drug is given if tamoxifen therapy fails to treat ER positive breast cancer?
everolimus (mTOR inhibitor)
50
What is present in prostate cancer that serves as a drug target?
androgen receptor
51
What are the multiple places you can target androgen-driven prostate cancer?
pituitary stimulus blockers prevent androgen synthesis blockage AT the androgen receptor alock DHT/AR from entering the nucleus
52
What drug prevents DHT-androgen receptor from going into the nucleus?
enzalutamide
53
Sonic Hedgehog is mutated in what type of cancer?
basal cell carcinoma
54
What happens with a sonic hedgehog mutation?
PRCH is forced to release SMO so it can go to the nucleus and drive proliferation
55
How do you treat a sonic hedgehog mutation?
vismodegib

CMOD Block 2 (11 decks)

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