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Pharm 225 > Pharmacogenomics > Flashcards

Pharmacogenomics Flashcards

1
Q

Who is the father of medicine?

A

hippocrates

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2
Q

What are the four rights?

A

right patient, drug, time , dose

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3
Q

How many cells in human body?

A

30-40 trillion

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4
Q

How many cells die each day?

A

100 billion

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5
Q

What are the cell cycle stages?

A

G1- grows and prepare for DNA rep
S- DNA rep
G2- grow and prepare for mitosis
M-mitosis
G0- left cycle to function

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6
Q

Where are the checkpoints/

A

G1 and G2

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7
Q

Where is the restriction point?

A

G1, before S phase

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8
Q

What is a checkpoint in mitosis?

A

anaphase checkpoint

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9
Q

How does the anaphase checkpoint work?

A

if not attached to spindle it blocks anaphase

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10
Q

What percent of genome codes for genes?

A

10%

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11
Q

How many genes in one chromosome, how many base pairs?

A

2500-5000 genes
130 million base pairs

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12
Q

What is the structure of a chromosome?

A

2 of H2A,H2B,H3,H4 and one H1

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13
Q

What does H1 do?

A

clips

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14
Q

WHat is size of mature mRNA from the gene?

A

10%

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15
Q

What is transcription?

A

gene to RNA

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16
Q

What is translation?

A

RNA to protein

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17
Q

Where are promoters found? How can we innactivate them?

A

upstream
innactivate by methylation

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18
Q

How many base pairs in genome?

A

3 billion

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19
Q

What is ENCODE?

A

annotation of DNA elements

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20
Q

What are comparative genomics?

A

compare between species

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21
Q

What are functional genomics?

A

the function of it

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22
Q

What are structural genomics?

A

structure of proteins encoded by genome

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23
Q

What is genetic mosaicism?

A

DNA mutation

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24
Q

What are the 4 essential parts of genomic studies?

A

Variations
expressions
regulations
correlations

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25
Q

What is the most common type of variation?

A

SNP

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26
Q

What is the frequency of SNP?

A

1 in 1000

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27
Q

How many coding SNPs are there?

A

5 coding SNPs

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28
Q

How many SNPs between 2 people?

A

3 billion/1250

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29
Q

What are CNVs? What causes it?

A

change in copies of gene
Recombination causes it

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30
Q

What are examples of INDEL?

A

CF= deletion of CFTR gene
Huntington- repeat exampsion
Breast cancer- deletion of BRCA

31
Q

How many loci in genome?

A

255

32
Q

What is a common spot for structural variation?

A

short arm of chromosome 1

33
Q

What is the philadelphia chromosome?

A

translocation of 9 and 22
makes BCR ABLE gene for cancer

34
Q

What is genetics vs genomics?

A

Genome= all, and their function

35
Q

Explain the pharmacgenomics of tamoxifen?

A

Needs CYP 2D6 to become active
highly variational

36
Q

What enzyme metabolizes the msot amount of drugs?

A

CYP 3A4

37
Q

Example of pharmacogenomics with phenytoin?

A

CYP 2C9 variants= poor clearance
most common in asian

38
Q

What do you do if hydrocodone and one copy of the CYP 3A4 copy is decreased and no CYP 2D6?

A

can get normal metabolism still with 3A4

39
Q

What are the four P’s of medicine?

A

predictive
preventative
personalized
participatory

40
Q

What is cost for whole genome sequenced, What about just exons?

A

1000-3000$
1000-2000

41
Q

What is a biochip?

A

array of biomolecules immobilized on surface

42
Q

What is PharmGKB?

A

annotating drug labels containing pharmacogenomic information

43
Q

What is DMD gene?

A

largest gene with potenitla large deletions
x linked= more in males

44
Q

What is eteplirsen for?

A

skip exon 51 for DMD
shortened DMD will have 50% function

45
Q

What is BRCA biomarker for?

A

breast and ovarian cancer

46
Q

What is the drug vitrakvi (larotrectinib)?

A

1st drug targeting genetic mutation in cancer
for NTRK

47
Q

How are SNPs related to vitamin D and breast cancer risk?

A

if heterzygous for one SNP= low risk of BC

48
Q

Explain pharmacogenomics and warfarin?

A

CYP 2C9= lots of variation= may need to adjust dose

49
Q

What is the accuracy of CNVnator?

A

very accurate and highly sensitive

50
Q

If a patient has null copies what does this mean?

A

neither copy works

51
Q

What are some gene expression profiling tech?

A

microarray, DEG, SEG, RNA splicing, biopsy, SAGE

52
Q

What is the rate of approved personalized medicine drugs?

A

1/4

53
Q

What therapuetic areas are high demand areas for personalized medicine?

A

Oncology

54
Q

WHat does biomarker Her2 mean?

A

breast cancer

55
Q

What is use of imatinib?

A

stop BCR ABLE TK= apoptosis

56
Q

What is treatment for stage 2 Breast Cancer?

A

surgery
radiatoin- for lymph nodes
chemo- adjunct

56
Q

What is treatment fo stage 1 breast cancer?

A

surgery
radiation
hormonal therapy
chemo
targeted- for HER 2 + and high recurrance rates

57
Q

Examples of treatment for stage 2 chemo?

A

AC-T
T-AC
CAF

58
Q

What is treatment of stage 3?

A

cehmotherapy- adjunct
Targeted
surgery
radiation- after breast conserving surgery

59
Q

Treatment of stage 4 breast cancer?

A

hormonal
chemo

60
Q

What is luminal A?

A

ER+ HER2-

61
Q

What is luminal B?

A

ER+ HER2+

62
Q

What is HER2?

A

ER- PR- HER2+

63
Q

What is triple negative?

A

ER- PR- HER2-
poorest prognosis

64
Q

How does regulation of cell cycle in ER+ cancer?

A

stop production of ER and stop binding

65
Q

What is palbociclib?

A

first CDK4/6 inhibitor
block phosphorylation of Rb= prevent cancer from passing r point= cant divide

66
Q

How does trastuzumab work?

A

domain 4 of HER2= slow tumour growth

67
Q

How does pertuzumab work?

A

domain 2 = blocks dimerization= decreases cell growth

68
Q

What is T-DM1?

A

trastuzumab and emtansine
emtansine= cytotoxic for metastatic cancer

69
Q

What is lapatinib?

A

dual TK inhibitor that REVERSIBLY bind to EGFR and HER2= stop proliferation and growth

70
Q

What is gefitinib?

A

inhibitor of EGFR= stops proliferation and synthesis

71
Q

What is cetuxumab?

A

MAB against EGFR= head neck and colorectal cancer

72
Q
A

Pharm 225 (3 decks)

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