ABSTRACT
Key Concepts ...........................................................................................................95 Introduction ..............................................................................................................96 Types of Genetic Variation and Methods of Detection ............................................98 Pharmacokinetics ................................................................................................... 100
CYP2D6............................................................................................................. 101 CYP2C9 ............................................................................................................. 102 CYP2C19 ........................................................................................................... 103 CYP3A4 and CYP3A5 ....................................................................................... 103
Other Drug-Metabolizing Enzymes: TPMT, NAT, and UGT1A1 ......................... 104 Thiopurine Methyltransferase ........................................................................... 104 N-Acetyltransferase........................................................................................... 105 UDP-Glucuronosyltransferase 1A1 .................................................................. 106
Drug Transporters .................................................................................................. 107 ABCB1 .............................................................................................................. 108 Breast Cancer Resistance Protein...................................................................... 109 Organic Anion-Transporting Polypeptides ....................................................... 110
Pharmacodynamics ................................................................................................ 111 Pharmacogenomics of Targeted Cancer Therapies ................................................ 112
BCR-ABL ........................................................................................................... 113 HER2 Testing in Breast Cancer ......................................................................... 114
Lung Cancer Therapy Targets ................................................................................ 117 EGFR Mutations in Lung Cancer ..................................................................... 117 ALK Rearrangement in NSCLC ....................................................................... 119
Genetic Testing for Inherited Cancer Susceptibility .............................................. 121 Summary ................................................................................................................ 130 Study Questions ..................................................................................................... 131 References .............................................................................................................. 132
• Genetic variants associated with pharmacogenomics include SNPs, mutations, insertions, small deletions or duplications, large deletions or duplications, and chromosome rearrangements.
