Cancer and Metastasis Reviews

, Volume 31, Supplement 1, pp 29–32 | Cite as

The role of pharmacogenomics in metastatic renal cell carcinoma

  • Daniel Castellano
  • Juan Antonio Virizuela
  • Josefina Cruz
  • Juan Manuel Sepulveda
  • Maribel Sáenz
  • Luís Paz-AresEmail author


Pharmacogenomics is the study of how variation in the genetic background affects an individual’s response to a specific drug and/or its metabolism. Using knowledge about the genes which produce the enzymes that metabolize a specific drug, a physician may decide to raise or lower the dose, or even change to a different drug. Targeted therapy with tyrosine kinase inhibitors (TKIs) and mammalian target of rapamycin (mTOR) inhibitors has led to a substantial improvement in the standard of care for patients with advanced or metastatic renal cell carcinoma (RCC). Although few studies have identified biomarkers that predict the response of targeted drugs in the treatment of metastatic RCC, some associations have been found. Several studies have identified genetic polymorphisms with implications in the pharmacokinetics and/or pharmacodynamics of TKIs and mTOR inhibitors and which are associated with a prolonged progression-free survival and/or overall survival in patients with metastatic RCC. Among the genes of interest, we should consider IL8, FGFR2, VEGFA, FLT4, and NR1I2. In this review, we discuss single nucleotide polymorphisms (SNPs) associated with outcome and toxicity following targeted therapies and provide recommendations for future trials to facilitate the use of SNPs in personalized therapy for this disease.


Single nucleotide polymorphisms Pharmacokinetic Pharmacodynamic Biomarkers 



The authors acknowledge the support of Novartis Oncology Spain, which has facilitated the necessary meetings to evaluate and discuss all the data presented in this review, and Dr. Fernando Sánchez-Barbero from HealthCo SL (Madrid, Spain) for assistance in the preparation of this manuscript.

Conflict of interest

The authors declare that they do not have any conflict of interest that may inappropriately influence this work.


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Daniel Castellano
    • 1
  • Juan Antonio Virizuela
    • 2
  • Josefina Cruz
    • 3
  • Juan Manuel Sepulveda
    • 1
  • Maribel Sáenz
    • 4
  • Luís Paz-Ares
    • 5
    Email author
  1. 1.Hospital Universitario 12 de OctubreMadridSpain
  2. 2.Hospital Universitario Virgen de la MacarenaSevillaSpain
  3. 3.Hospital Nuestra Señora de la CandelariaSanta Cruz de TenerifeSpain
  4. 4.Hospital Universitario Virgen de la VictoriaMálagaSpain
  5. 5.Instituto de Biomedicina de SevillaHospital Universitario Virgen del RocíoSevillaSpain

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