Pharmacogenetic tests in cancer chemotherapy: what physicians should know for clinical application

  title={Pharmacogenetic tests in cancer chemotherapy: what physicians should know for clinical application},
  author={Soo-Youn Lee and Howard L. McLeod},
  journal={The Journal of Pathology},
Significant efforts to develop pharmacogenomic predictors have been made to guide more effective and safer chemotherapy. Although a considerable amount of data has been generated from numerous experimental or clinical studies, there is a large gap between pharmacogenomic knowledge and clinical application. This review will focus on eight pharmacogenetic tests including TYMS, DPYD, UGT1A1, CYP2D6, EGFR, KRAS, FCGR3A, and BRCA1/2 to predict toxicity or response to commonly used chemotherapeutic… 

Pharmacogenomics: Success and Challenges

There are now several prominent examples in which tumor-associated somatic mutations have been used to identify cellular signaling pathways in tumors, and knowledge that ultimately can be used to improve the benefit: risk ratio of therapeutics for individual patients is learned.

Cost-Effectiveness of Pharmacogenomic and Pharmacogenetic Test-Guided Personalized Therapies: A Systematic Review of the Approved Active Substances for Personalized Medicine in Germany

The objective of this study was to review the cost-effectiveness (CE) of pharmacogenetic test-guided drug therapy and compare the application of drugs with and without prior genetic testing.

Personalized medicine in oncology: where have we come from and where are we going?

There is a persistent gap between the growing number of identified deregulated pathways or genetic mutations, both at the tumor and the constitutional levels, and their actual implementation at the bedside as part of clinical routine.

Toxicity and Pharmacogenomic Biomarkers in Breast Cancer Chemotherapy

The major findings of pharmacogenomic studies of chemotherapy toxicity during BC management are reassessed and the potential targets of future research are emphasized.

The Role of Genes on the Metabolism of Chemotherapeutic Agents and Their Impact on Toxicity

Understanding the metabolic relationship between genes and chemotherapeutic agents can be used to personalize chemotherapy regimens and ensure that treatment benefits outweigh treatment risks.

Concern for Pharmacogenomics and Autologous Cell Therapy: Can This Be a Direction Toward Medicine for the Future?

Individualized medicine has advanced because researchers have discovered hundreds of genes that harbor variations contributing to human illness and identified genetic variability in patients’ responses to dozens of treatments and have begun to target the molecular causes of some diseases.

Pharmacogenetics, Pharmacogenomics and Ayurgenomics for Personalized Medicine: A Paradigm Shift

  • Pooja Gupta
  • Medicine, Biology
    Indian journal of pharmaceutical sciences
  • 2015
Ayurveda, an exquisitely elaborate system of predictive medicine which has been practiced for over 3500 years in India, can help in bridging this gap in genomics, and Ayurgenomics could complement personalized medicine.

Pharmacovigilance in oncology: evaluation of current practice and future perspectives.

An understanding of the methodologies used by PV in current clinical practice and particularly in cancer drug therapy are provided; a focus upon reporting of ADRs by health professionals and patients; and a focus on methods used to detect new signals of risk/harm related to medicines utilization are provided.

Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines

This document contains recommended pharmacogenetic testing guidelines for clinical application, interpretation, and result reporting through a literature review and evidence-based expert opinions for the clinical pharmacogenetics testing covered by public medical insurance in Korea.

miRNA pharmacogenomics: the new frontier for personalized medicine in cancer?

A review of the most recent and promising results in the field of miRNA encoding genes, their targets or factors involved in their maturation are rising as new pharmacogenomic markers in cancer.



Pharmacogenomics and colorectal cancer.

  • H. Lenz
  • Biology
    Annals of oncology : official journal of the European Society for Medical Oncology
  • 2004
Preliminary data suggest that germ line polymorphisms of cyclin D and gene expression levels of VEGF are associated with efficacy of Erbitux therapy and molecular determinants play an important role in response to 5-FU.

Have we made progress in pharmacogenomics? The implementation of molecular markers in colon cancer.

There is a need to identify panels of predictive markers of response to therapy for advanced CRC, in order to improve these disappointing response rates.

Pharmacogenetics of irinotecan: clinical perspectives on the utility of genotyping.

Depending upon the UDP glucuronosyltransferase 1A1 (UGT1A1) genotype, patients are more or less susceptible to the risk of severe toxicity of irinotecan. As the US FDA-approved label of irinotecan

Tamoxifen Pharmacogenomics: The Role of CYP2D6 as a Predictor of Drug Response

The a priori knowledge of the pharmacogenetic variation known to abrogate CYP2D6 enzyme activity may provide a means by which the hormonal therapy of breast cancer can be individualized.

Pharmacogenetics and irinotecan therapy.

At least part of the interpatient variability of irinotecan toxicity can be explained by the UGT1A1*28 polymorphism, and a molecular assay is now available to identify the at-risk subgroup and should be used by health care professionals to help guide irinOTecan-treatment decisions.

Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes.

  • M. GoetzJ. Rae J. Ingle
  • Biology, Medicine
    Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • 2005
In tamoxifen-treated patients, women with the CYP2D6 *4/*4 genotype tend to have a higher risk of disease relapse and a lower incidence of hot flashes, which is consistent with the previous observation that CYP3A5*3 variant was not associated with any of these clinical outcomes.

Implications of dihydropyrimidine dehydrogenase on 5-fluorouracil pharmacogenetics and pharmacogenomics.

The basis and challenges of pharmacogenetic and pharmacogenomic testing of DPD for the determination of 5-FU efficacy and toxicity are reviewed.

American Society of Clinical Oncology provisional clinical opinion: testing for KRAS gene mutations in patients with metastatic colorectal carcinoma to predict response to anti-epidermal growth factor receptor monoclonal antibody therapy.

This PCO addresses the utility of KRAS gene mutation testing in patients with metastatic colorectal carcinoma to predict response to anti-epidermal growth factor receptor (anti-EGFR) monoclonal antibody (MoAb) therapy with cetuximab or panitumumab with a systematic review of the relevant literature.