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PHAR 225 - PK Final Exam (China Bois) > Pharmacogenomics (Yang) > Flashcards

Pharmacogenomics (Yang) Flashcards

1
Q

Four “Rights” of PM?

A

-Right Patient
-Right Drug
-Right Time
-Right Dose

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2
Q

How many cells in the body die off and are replaced by new ones (each day)?

A

100 billion

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3
Q

Where are checkpoints in the cell cycle located?

A

-G1 (before S Phase where DNA Replication occurs)

-G2 (in prep for Mitosis)

-Anaphase (within Mitotic processes)

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4
Q

The Restriction Point in the cell cycle sees the cell doing what?

A

Full commitment to cellular division

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5
Q

How many hours before DNA Replication (ie. S Phase) do we hit the R Phase in the cell cycle?

A

2hrs

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6
Q

T or F: Microbands consist of 3-5mil BPs, 60-120 genes, & are unevenly distributed along the chromosome.

A

All true!

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7
Q

What percentage of chromosomes encode for genes?

A

10%… 90% for Non-Coding Regions!

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8
Q

Subunits of an Octomeric Histone Core? What Histone protein do they attach at?

A

-H2A, H2B, H3, H4 (two of each)

-Attach at H1

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9
Q

An average gene ranges in size from 1.5 - ___kb pairs.

A

2000

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10
Q

Promoters typically “promote” gene expression… However, what modification at the level of the Promoter represses gene transcription?

A

Methylation

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11
Q

Describe the relative size of the Mitochondrial Genome (ie. How many BPs, Genes).

A

BPs: ~17 000
Genes: 38

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12
Q

“ENCODE” stands for what?

A

(ENC)yclopedia (O)f (D)na (E)lements

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13
Q

Which of the following studies looks at underlying mechanisms of DNA mutations within the genome?

Genetic Mosaicism
Genome-Wide Assoc.
Comparative Genomics
Functional Genomics
Structural Genomics

A

Genetic Mosaicism

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14
Q

Which of the following studies looks at genetic markers & their associations with disease phenotype?

Functional Genomics
Structural Genomics
Comparative Genomics
Genome-Wide Assoc.
Genetic Mosaicism

A

Genome-Wide Association

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15
Q

Average frequency of SNPs?

A

1 - 100 (0.01%) to 1 - 1000 (0.001%)

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16
Q

Each gene contains approximately how many possible coding SNPs?

A

5

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17
Q

If a SNP is contained within the Regulatory region of a gene, what might happen?

A

Changes to expression levels of a gene.

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18
Q

If a SNP is contained within the 1st or 2nd codon of an AA Triplet (inside the Coding region of a gene), what might happen?

A

Change to protein structure (& thus protein function).

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19
Q

If a SNP is contained within the 3rd codon of an AA Triplet (inside the Coding region of a gene), what might happen?

A

Potential change to protein structure & function, unless changing the 3rd codon of the triplet maintains translation of the same protein!

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20
Q

I have two patients and want to determine the SNP frequency between them within the Coding regions of their respective genomes. How would you calculate this?

A

= (3 000 000 000 / 1250) x (0.10)

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21
Q

I have two patients and want to determine the SNP frequency between them within the Non-Coding regions of their respective genomes. How would you calculate this?

A

= (3 000 000 000 / 1250) x (0.90)

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22
Q

What are the two predominant mechanisms of genome evolution?

A

Gene Duplication & Exon Shuffling

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23
Q

Types of Indels?

A

-Single BP Indels
-Monomeric BP Expansion
-Multi BP Repeats
-Transposon Insertions

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24
Q

At what CFTR gene position do we see a three BP deletion in Cystic Fibrosis patients?

A

508 (Phenylalanine Deletion)

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25
Q

Huntington’s patients see a 35 BP expansion of triplets… What BPs are expanded upon?

A

CAG

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26
Q

The short arm of what chromosome is an example of a structural hot spot (ie. Gene region with lots of variation & associated with genetic disorders / diseases)?

A

Chromosome 1

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27
Q

A balanced translocation between Chromosomes __ & __ creates the oncogenic BCR-ABL gene (Philadelphia Chromosome)?

A

9 & 22

28
Q

Genetics studies _____, whereas genomics studies entirety.

A

heredity

29
Q

What is the fundamental difference between Pharmacogenomics and Pharmacogenetics?

A

Pharmacogenomics: What is the proper drug & dose to accommodate for genetic differences in patients?

Pharmacogenetics: What individual genes are response for variable response to drugs?

30
Q

What encompasses Pharmacogenomics?

A

-Appropriate Dose
-Avoid Toxicity
-Ensure Efficacy
-Reduce S/Es
-Develop Novel Drugs
-Explain Variable Drug Response

31
Q

Deficiencies in what CYP enzyme see Tamoxifen not being an effective breast cancer treatment?

A

CYP2D6

32
Q

Which allelic variants of CYP2D6 sees a patient having increased enzyme activity? Inactive altogether? Reduced activity?

A

Increased: Some 2A forms

Inactive: 3 - 8, 11

Reduced: 10

33
Q

What can Pharmacogenomic Biomarkers describe?

A

-Drug Exposure / Dosing
-Clinical Outcomes
-S/Es
-Drug Target
-MOA

34
Q

A patient has mixed genotypic expression of CYP2C9 (*2 / *3) & presents with epileptic seizures. Their doctor wants to initiate on Phenytoin. What would you recommend regarding their dosage regimen?

A

Very low doses (or different drug altogether), as this patient (based upon presenting allelic expression) will be a poor Phenytoin metabolizer.

35
Q

Aside from alleles 2 & 3, what other CYP2C9 allelic copies may result in poor (or altogether zero) Phenytoin clearance?

A

5, 6, 8, 11

36
Q

Of the following ethnicities, which one has the highest prevalence of being an intermediate CYP2C9 metabolizer?

Caucasian
Asian
African-American
Latino

A

Caucasian (35%)… Asians can be up to 36% in some populations but they’re a spectrum.

37
Q

What are the four Ps of Personalized Medicine?

A

-Predictive
-Preventative
-Personalized
-Participatory

38
Q

“PCR on a Chip” assesses what analytes?

DNA
RNA
Metabolites
Proteins

A

DNA

39
Q

Largest known human gene?

A

DMD (Duchenne Muscular Dystrophy)… 2.5 MB pairs with 75 Exons!

40
Q

How does Eteplirsen work to treat DMD?

A

Restores reading frame by causing Exon 51 excision.

41
Q

What was the first FDA-approved cancer drug used to treat a genetic mutation (rather than cancerous types)?

A

Larotrectinib

42
Q

Which drug causes more emergency department visits in elderly populations than any other?

A

Warfarin

43
Q

Which CYP2C9 allelic subtypes would warrant a patient getting a lower Warfarin dose?

A

2, 3

44
Q

1/__ drugs approved by the FDA between 2013 & 2017 was some form of a Personalized Medicine.

A

1/4

45
Q

Within what three therapeutic sciences did we see the greatest developments of PGx-Labeled Drugs?

A

1) Oncology (49.4%)
2) Neurology (9.0%)
3) ID (7.9%)

46
Q

Imatinib was approved for various forms of Leukemia & works in what fashion?

A

Inhibits BCR-ABL Tyrosine Kinase enzyme, preventing BCR-ABL positive cells from proliferating (& simultaneously induces apoptosis).

47
Q

Primary treatment for Stage I Breast Cancer?

A

Surgery

48
Q

Is chemotherapy typically offered up for treating Stage I Breast Cancer?

A

Nope.

49
Q

Standard treatment for Stage II Breast Cancer?

A

Surgery

50
Q

What other treatments available for Stage II Breast Cancer?

A

-Radiation (Including Lymph Nodes)

-Chemo (Adjuvant & Neoadjuvant)

-Hormonal

-Targeted

51
Q

Primary treatments for Stage IV Breast Cancer?

A

-Hormonal

-Chemo (goal now to reduce cancer growth rather than curative)

-Targeted

52
Q

A patient is ER+, PR+, & HER2-… What form of Breast Cancer do they have?

A

Luminal A

53
Q

A patient is ER+, PR+, & HER2+… What form of Breast Cancer do they have?

A

Luminal B

54
Q

A patient is ER-, PR-, HER2-… What form of Breast Cancer do they have?

A

Triple Negative

55
Q

A patient is ER-, PR+, HER2+… What form of Breast Cancer do they have?

A

Luminal B… Don’t require ER & PR to both be positive for this diagnosis (can be positive for one surface receptor or both).

56
Q

Explain Palbociclib’s MOA as it pertains to breast cancer treatment.

A

Prevents cells from passing the Restriction Point of the cell cycle, thus DNA Synthesis cannot occur!

57
Q

Palbociclib is often combined with an Aromatase Inhibitor or Fulvestrant to treat ___+, ____- Advanced or Metastatic Breast Cancer.

A

HR+, HER2-

58
Q

T or F: HER2 signaling cascades are mediated by ligand binding to receptors & stimulation of downstream signaling mechanisms within the cell.

A

False… Receptor Dimerization is what triggers downstream signaling (no ID’d ligands in HER2 breast cancer).

59
Q

Trastuzumab binds what subdomain of HER2 proteins?

A

Subdomain IV

60
Q

Pertuzumab binds what subdomain of HER2 proteins?

A

Subdomain II

61
Q

Emtansine is often combined within a conjugate drug therapy with Trastuzumab for treating HER2+ Metastatic / Early Staged HER2+ Breast Cancers. How does it work?

A

Cleaved from T-DM1 & elicits cytotoxic effects within breast cancer cells.

62
Q

Lapatinib is often combined with anti-metabolite drugs such as Capecitabine to treat what forms of HER2+ Breast Cancer?

A

Advanced / Metastatic HER2+ Breast Cancer

63
Q

Lapatinib demonstrates Dual-TK Inhibitory Effects… At what receptor types does it do so?

A

Reversibly binds to ATP-Binding Pockets of both EGFR & HER2

64
Q

What cancer form is Gefitinib indicated for?

A

Non-Small Cell Lung Cancer (NSCLC)

65
Q

Cetuximab is a MAB against ____, & is indicated for treatment of head, neck, & colorectal cancers.

A

EGFR

PHAR 225 - PK Final Exam (China Bois) (3 decks)

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