Related Experiment Video

Updated: Jul 3, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

Somatic pharmacogenomics in cancer

O N Ikediobi1

  • 1Department of Clinical Pharmacy, School of Pharmacy, University of California, San Francisco, CA 94118, USA. ikediobio@pharmacy.ucsf.edu

The Pharmacogenomics Journal
|August 6, 2008
PubMed

Insights

Pharmacogenetics in cancer has evolved from germline variants predicting toxicity to somatic mutations guiding targeted therapies. Understanding these molecular changes is key for developing personalized cancer medicine and overcoming drug resistance.

Area of Science:

  • Oncology
  • Pharmacogenetics
  • Molecular Biology

Background:

  • Early pharmacogenetics in oncology focused on germline variations impacting cytotoxic drug metabolism.
  • The advent of kinase inhibitors shifted focus to somatic genetic alterations driving cancer.
  • Current pharmacogenomics discussions often remain centered on germline variants for drug toxicity prediction.

Purpose of the Study:

  • To review the development of targeted therapies for hematological and solid tumors.
  • To discuss the role of somatic mutations in determining response to targeted cancer agents.
  • To explore the mechanisms underlying drug resistance in personalized cancer medicine.

Main Methods:

  • Literature review of targeted therapies in oncology.
  • Analysis of somatic mutations influencing targeted drug efficacy.
  • Examination of resistance mechanisms to cancer therapeutics.

Main Results:

  • Targeted therapies have advanced significantly, driven by understanding cancer's molecular genetics.
  • Somatic mutations are crucial determinants of patient response to specific targeted agents.
  • Drug resistance mechanisms are a critical challenge in the efficacy of targeted cancer treatments.

Conclusions:

  • Personalized medicine in oncology increasingly relies on understanding somatic genetic profiles.
  • Further research into targeted therapies and resistance mechanisms is imperative.
  • Bridging the gap between germline and somatic pharmacogenetics is essential for comprehensive cancer treatment.

More Related Videos

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor09:33

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

Published on: August 25, 2023

Utilizing Functional Genomics Screening to Identify Potentially Novel Drug Targets in Cancer Cell Spheroid Cultures07:48

Utilizing Functional Genomics Screening to Identify Potentially Novel Drug Targets in Cancer Cell Spheroid Cultures

Published on: December 26, 2016

Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...