Related Experiment Video

Updated: Aug 10, 2026

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology
11:20

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

Published on: March 21, 2018

Cytotoxic T lymphocyte antigen-4 promoter variants in breast cancer

N Erfani1, M Razmkhah, A R Talei

  • 1Department of Immunology, Shiraz University of Medical Sciences, Shiraz, Iran.

Cancer Genetics and Cytogenetics
|March 11, 2006
PubMed

Insights

Genetic variations in the CTLA4 gene promoter may influence breast cancer progression. Specific CTLA4 promoter genotypes were linked to lower disease stage and higher estrogen receptor expression, suggesting a role in tumor development rather than initial onset.

Area of Science:

  • Immunogenetics
  • Oncology

Background:

  • Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) is a key coinhibitory molecule on activated T cells.
  • Its role in the immune response to breast cancer, particularly in immune suppression, requires further investigation.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the CTLA4 gene promoter and breast cancer.
  • To determine if CTLA4 promoter variants influence disease progression and patient outcomes.

Main Methods:

  • Genotyping of three CTLA4 promoter SNPs (-1722 T/C, -1661 A/G, -318 C/T) in 283 breast cancer patients and 245 healthy controls.
  • Analysis of genotype, allele, and haplotype frequencies.
  • Correlation of CTLA4 variants with clinical parameters like disease stage, lymph node involvement, and estrogen receptor (ER) status.

Main Results:

  • No significant differences in overall genotype, allele, or haplotype frequencies were found between patients and controls.
  • A specific common haplotype (TAC/TAC) was associated with lower disease stage and higher ER expression.
  • The -1661 AA genotype correlated with less lymph node involvement and higher ER expression.
  • The -318 CC genotype was associated with less lymph node involvement.

Conclusions:

  • CTLA4 promoter variants do not appear to influence the initial development of breast cancer.
  • These variants are associated with breast cancer progression and specific tumor characteristics, such as disease stage and ER status.
  • CTLA4 promoter polymorphisms may play a role in modulating the tumor microenvironment and disease advancement.

Related Concept Videos

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
The Eukaryotic Promoter Region02:40

The Eukaryotic Promoter Region

The eukaryotic promoter region is a segment of DNA located upstream of a gene. It contains an RNA polymerase binding site, a transcription start site, and several cis-regulatory sequences.  The proximal promoter region is located in the vicinity of the gene and has cis-regulatory sequences and the core promoter. The core promoter is the binding site for RNA polymerase and is usually located between -35 and +35 nucleotides from the transcription start site. The distal promoter regions are...