Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants

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...

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

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 Metabolism: Overview

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...

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...

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

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...

Pharmacogenomics: Identification of New Drug Targets

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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Preclinical evaluation of the cardiac toxicity of HMR-1826, a novel prodrug of doxorubicin.

British journal of cancer·1999

Same author

A national survey of human Mycobacterium bovis infection in France. Network of Microbiology Laboratories in France.

The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease·1999

Same author

Thoracic outlet syndrome: influence of personal history and surgical technique on long-term results.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery·1999

Same author

Outcome of multi-drug-resistant tuberculosis in France: a nationwide case-control study.

American journal of respiratory and critical care medicine·1999

Same author

Beneficial effects of leukocyte-depleted blood and low-potassium dextran solutions on microvascular permeability in preserved porcine lung.

American journal of respiratory and critical care medicine·1999

Same author

Incidence, risk factors and management of bronchopleural fistulae after pneumonectomy.

Scandinavian cardiovascular journal : SCJ·1999

Same journal

[Off-label use of venetoclax in myeloma].

Bulletin du cancer·2026

Same journal

[Cemiplimab - Adjuvant treatment for the cutaneous squamous cell carcinomas with high risk of relapse, operated and treated by radiotherapy].

Bulletin du cancer·2026

Same journal

Real-world outcomes and management of endometrial cancer in France from 2016 to 2021 (MOONBEAM study).

Bulletin du cancer·2026

Same journal

[Cardiotoxicity in children and adolescents with acute leukemia: Recommendations from the Leukemia Committee of the French Society of Childhood Cancer (SFCE)].

Bulletin du cancer·2026

Same journal

[Reirradiation: A new therapeutic paradigm in oncology].

Bulletin du cancer·2026

Same journal

[Robotics in oncological surgery].

Bulletin du cancer·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Jun 6, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

[Gene polymorphisms].

¹Inserm U916, Institut Bergonié, université de Bordeaux, 33076 Bordeaux Cedex, France. robert@bergonie.org

Bulletin Du Cancer

|December 1, 2010

Summary

This summary is machine-generated.

Cancer arises from genetic alterations, including rare mutations and common polymorphisms. These genetic variations influence cancer development, susceptibility, and the effectiveness of chemotherapy.

More Related Videos

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Related Experiment Videos

Last Updated: Jun 6, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Area of Science:

Genetics and Molecular Biology
Cancer Biology
Pharmacogenomics

Context:

Cancer is increasingly understood as a genetic disease driven by alterations in oncogenes and tumor suppressor genes.
Both rare mutations and common genetic variations (polymorphisms) play critical roles in cancer development and treatment response.
Understanding the human genome's structure and variation is key to unraveling cancer's complexities.

Purpose:

To provide an overview of techniques for identifying structural DNA variations.
To explore the role of genetic polymorphisms in cancer susceptibility (molecular epidemiology).
To examine the influence of genetic variations on anticancer drug efficacy and toxicity (pharmacogenetics).

Summary:

This review discusses genetic mechanisms in cancer, focusing on oncogenes and tumor suppressor genes.
It highlights the distinct roles of somatic/germinal mutations versus common polymorphisms in cancer.
The paper details methods for detecting DNA variations and their implications in cancer and pharmacogenetics.

Impact:

Enhanced understanding of cancer's genetic basis.
Improved strategies for cancer risk assessment through molecular epidemiology.
Personalized medicine approaches in oncology via pharmacogenetics for optimized drug selection and reduced toxicity.