Genomics

Question 1

amitryptyline metabolism pathway

Answer 1

2C19 activates it

2D6 deactivates

Question 2

2D6 genotypes

Answer 2

• normal = 1, 2

- non-functional = 3-8

Question 3

amitryptyline 2C19 recommendations

Answer 3

• avoid in ultrarapid and poor metabolizers

- standard dose in extensive and intermediate

Question 4

amitryptyline 2D6 recommendations

Answer 4

• avoid in ultrarapid and poor

- 25% reduction in intermediate

Question 5

simvastatin gene involved in metabolism

Answer 5

SLCO1B1

Question 6

simvastatin genotypes/phenotypes

Answer 6

• TT = standard
• TC = intermediate
• CC = low function

Question 7

simvastatin dosing recommendations

Answer 7

• TT = normal
• TC = lower dose or alternative
• CC = lower dose or alternative

Question 8

methotrexate metabolism by

Answer 8

SLC19A1

Question 9

methotrexate mutation

Answer 9

SNP at SLC19A1

Question 10

methotrexate recommendations

Answer 10

no definitive recommendations

-higher risk of toxicity has been seen

Question 11

clopidogrel metabolism

Answer 11

2C19

Question 12

clopidogrel phenotypes

Answer 12

• Ultra = 17
• extensive = 1/1
• intermediate = 1 and 2-8 or 17 and 2-8
• poor = 2-8

Question 13

clopidogrel recommendations

Answer 13

any loss of function allele should get alternative therapy

-still use in ultra rapid

Question 14

bupropion metabolised by

Answer 14

2B6

Question 15

bupropion moderately inhibits

Answer 15

2D6

Question 16

gene related to smoking cessation in bupropion

Answer 16

ANKK1

Question 17

bupropion recommendations

Answer 17

• loss of 2B6 may need other treatment

- ANKK1 AA or AG may have decreased response

Question 18

codeine metabolism

Answer 18

2D6

Question 19

codeine recommendations

Answer 19

-alternative in ultra rapid and poor

Question 20

aripiprazole metabolism

Answer 20

3A4

2D6

Question 21

aripiprazole recommendations

Answer 21

• poor 2D6 = reduce dose by half

- poor 2D6 + 3A4 inhib = reduce to 1/4

Question 22

drugs to do HLA-B*5701 test for

Answer 22

abacavir

carbamazepine

Question 23

patients to do HLA testing when using allopurinol

Answer 23

chinese

Question 24

warfarin metabolism

Answer 24

VKORC

2C9

Question 25

normal VKORC1 genotypes

Answer 25

G

C

Question 26

VKORC1 mutations

Answer 26

G > A

C > T

Question 27

2C9 genotypes

Answer 27

1 - normal

2,3 - reduced

Question 28

warfarin recommendations

Answer 28

no specific, maybe use table

Question 29

irinotecan mutation

Answer 29

UGT1A1*28

Question 30

irinotecan recommendations

Answer 30

if UGT1A1*28 is present reduce dose by 30%

Question 31

tamoxifen metabolism

Answer 31

mainly activated 2D6

some 2C9 and 3A4

Question 32

tamoxifen recommendations

Answer 32

• avoid in poor
• consider something else in intermediate
• ultra rapid is fine

Question 33

gene of interest in cetuximab and panitumumab

Answer 33

KRAS

if its not present then they won’t work