Cancer Pharmacogenomics Flashcards

1
Q

What is the origin of the mutated cell if it is from the germ-line?

A

Germ cells

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2
Q

What is the origin of mutated cells if they are somatic?

A

Tumor

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3
Q

What is the sampling method for germ-line cancers?

A

Blood sampling

Buccal swab

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4
Q

What is the sampling method for somatic cancers?

A

Tumor biopsy

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5
Q

How can a liquid biopsy be used?

A

Early intervention
Localized disease
Metastatic disease
Refractory disease

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6
Q

What are the pieces within a blood biopsy that are being detected?

A

Circulating tumor cells

cfDNA

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7
Q

What dose the cfDNA show?

A

Size and vascularity of tumor

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8
Q

How does a liquid biopsy help with early intervention?

A

Diagnose the cancer earlier through screening

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9
Q

How is a liquid biopsy involved in localized disease?

A

Determine the risk of recurrence after treatment

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10
Q

How is liquid biopsy used for metastatic disease?

A

Determine treatment selection based on the presence of biomarkers

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11
Q

How is a liquid biopsy used for refractory diseases?

A

Determine mechanisms of resistance, disease progression and identification of newer treatments

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12
Q

What drugs target HER2?

A

Trastuzumab
Pertuzumab
Lapatinib

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13
Q

What is lapatinib?

A

TKI

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14
Q

Which drugs target EGFR?

A
Cetuximab
Panitumumab
Gefatinib
Erlotinib
Lapatinib
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15
Q

Which EGFR drugs are intracellular?

A

Gefatinib
Erlotinib
Lapatinib

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16
Q

What are RFs for EGFR mutations?

A

Female
East Asian descent
Non-smokers
Adenocarcinomas

17
Q

What new drug is approved for T790M-mediated EGFR TKI resistance?

A

Osimertinib

18
Q

Cutaneous melanomas have mutations in what?

A

BRAF

19
Q

What drug is used to target BRAF mutations?

A

Vemurafenib

20
Q

What anti-cancer medication is metabolized by 2D6?

A

Tamoxifen

21
Q

What drugs are potent inhibitors of 2D6?

A

Fluoxetine
Paroxtine
Bupropion

22
Q

What are moderate inhibitors of 2D6?

A
Sertraline
Duloxetine
Cimetidine
Amiodarone
Haloperidol
Diphenhydramine
Trazodone
23
Q

Which tamoxifen allele has the least enzyme activity of 2D6?

A

*4

24
Q

What are the most common 2D6 alleles?

A
  • 4
  • 5
  • 6
  • 10
  • 17
25
Q

What is the most common 2D6 allele for caucasians?

A

*4

26
Q

What is the most common 2D6 allele for AAs?

A

*17

27
Q

What is the most common a 2D6 allele for Japanese?

A

*10

28
Q

Which enzyme is involved in the metabolism of mercaptopurine?

A

TPMT

29
Q

What are the most common allele variations of TPMT

A
  • 2

* 3

30
Q

When enzyme metabolizes irinotecan?

A

UGT1A1

31
Q

What is the most common allele that reduces glucuronidation in UGT1A1?

A

*28

32
Q

What toxicity is more common if a patient is on irinotecan and has a 28/28 genotype?

A

Neutropenia

33
Q

What is fluorouracil broken down by?

A

DPYD

34
Q

What is the most frequent allele for DPYD?

A

*2A