Reference no: EM133431188
Case Study: At first things are going well, but two years after her surgery, EB notices a lump where her previous cancer has been. EB's doctor thinks that she might be resistant to the Tamoxifen therapy. Her doctor also thinks this could be due to a pharmacogenomic affect. Luckily, EB has had her genome sequenced, so her doctor can check for any important germline polymorphisms or mutations.
Questions:
Metabolism is a major factor for PGx interactions. Which gene encoding a metabolizing enzyme do you think would be most important to evaluate for a polymorphism? Is this a Phase 1 or Phase 2 enzyme?
Why did you choose this gene? (Hint: what is the evidence for a gene:drug interaction)
How could this gene:drug interaction affect Tamoxifen efficacy? (Hint: What are we concerned about for the patient?)
EB's genotype of all possible metabolizing enzymes turn out to be normal.
What other pharmacokinetic process besides metabolism could be altered due to genetic polymorphisms?
What proteins have this function for Tamoxifen?
How could this relate to resistance to Tamoxifen therapy? (Hint: What is the evidence for any relevant gene:drug pairs?)