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

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 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...

Mismatch Repair

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

Mismatch Repair

Mismatch Repair

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...

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...

You might also read

Related Articles

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

Sort by

Same author

Clinical Manifestations and Genetic Findings in Three Patients with Chediak-Higashi Syndrome: Highlighting the Splice Site Variants.

Iranian journal of allergy, asthma, and immunology·2026

Same author

The ISAG 2024/2025 Forensic Comparison Test: A Curated Pilot Dataset for Domestic Animal Forensic Genetics.

Animal genetics·2026

Same author

Application of an integrated process including sand media, constructed wetland, and nylon 6 membrane in wastewater treatment of the herbal essences industry.

Environmental science and pollution research international·2026

Same author

Personalizing sinus surgery: a systematic review and meta-analysis of clinical and genetic predictors of outcome in chronic rhinosinusitis.

Journal of the Korean Association of Oral and Maxillofacial Surgeons·2026

Same author

Mesothelin/Mucin 16 Signaling in Activated Portal Fibroblasts Drives the Development of Cholestatic Fibrosis and Hepatocellular Carcinoma in Aged Female Multidrug Resistance Protein 2 Knockout Mice.

Cellular and molecular gastroenterology and hepatology·2026

Same author

Concurrent presentation of appendiceal sessile serrated lesions with other appendiceal neoplasms.

Human pathology·2026

Search research articles

Related Experiment Video

Updated: May 25, 2026

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

MTHFR polymorphisms and breast cancer risk.

Mojgan Hosseini¹, Massoud Houshmand, Ahmad Ebrahimi

¹Department of Science, Islamshahr Branch, Islamic Azad University, Islamshahr, Tehran, Iran.

Archives of Medical Science : AMS

|February 1, 2012

Summary

Investigating the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, this study found specific MTHFR polymorphisms (C677T and A1298C) are significant risk factors for breast cancer in an Iranian population.

Keywords:

MTHFR gene PCR-RFLP breast cancer polymorphism susceptibility factor

Related Experiment Videos

Last Updated: May 25, 2026

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

Area of Science:

Genetics and Molecular Biology
Oncology
Population Health

Background:

The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene plays a crucial role in folate metabolism.
Functional single nucleotide polymorphisms (SNPs), specifically C677T and A1298C in the MTHFR gene, are associated with reduced enzyme activity.
Altered MTHFR enzyme activity can impact tumor cell chemosensitivity.

Purpose of the Study:

To investigate the association between two common MTHFR gene polymorphisms (C677T and A1298C) and the risk of sporadic breast cancer.
To evaluate the prevalence of these MTHFR polymorphisms in an Iranian population.

Main Methods:

A population-based case-control study was conducted.
The study included 294 breast cancer cases and 306 controls from Iran.
Genotyping for MTHFR C677T and A1298C polymorphisms was performed using a PCR-RFLP assay.

Main Results:

The MTHFR 677CC genotype was the most frequent in both cases (28.3%) and controls (25.3%).
The MTHFR 677CT genotype was identified as a statistically significant risk factor for breast cancer (OR: 1.6, 95% CI: 1.019-2.513, p=0.041).
The MTHFR 1298AC genotype also emerged as a significant risk factor (OR: 2.575, 95% CI: 1.590-4.158, p=0.001).

Conclusions:

A significant association exists between MTHFR gene polymorphisms (C677T and A1298C) and breast cancer risk in the studied Iranian population.
These findings highlight the potential role of MTHFR gene variants in breast cancer susceptibility.