The use of genomic information to optimize cancer chemotherapy

Semin Oncol. 2011 Apr;38(2):186-95. doi: 10.1053/j.seminoncol.2011.01.005.


The field of pharmacogenomics is focused on the characterization of genetic factors contributing to the response of patients to pharmacological interventions. Drug response and toxicity are complex traits; therefore the effects are likely influenced by multiple genes. The investigation of the genetic basis of drug response has evolved from a focus on single genes to relevant pathways to the entire genome. Preclinical (cell-based models) and clinical genome-wide association studies (GWAS) in oncology provide an unprecedented opportunity for a comprehensive and unbiased assessment of the heritable factors associated with drug response. The primary challenge with attempting to identify pharmacogenomic markers from clinical studies is that they require a homogeneous population of patients treated with the same dosage regimen and minimal confounding variables. Therefore, the development of cell-based models for pharmacogenomic marker identification has utility for the field since performing these types of studies in humans is difficult and costly. This review intends to provide a current report on the status of genomic studies in oncology, the methods for discovery, and implications for patient care. We present a perspective and summary of the challenges and opportunities in translating heritable genomic discoveries to patients.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Deoxycytidine Kinase / genetics
  • Genome-Wide Association Study
  • Humans
  • Neoplasms / drug therapy*
  • Neoplasms / genetics*
  • Polymorphism, Single Nucleotide
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / drug therapy
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Quantitative Trait Loci


  • Deoxycytidine Kinase