ESR1 c.1613A>G (p.D538G) Genomic DNA Reference Standard

Product Overview
   In the era of precision medicine, the research and detection of genetic mutations are central to disease diagnosis, prognosis, and targeted therapy. The ESR1 (Estrogen Receptor 1) gene is a critical target in breast cancer, and the accurate identification of its mutational status is paramount. To meet this need, we introduce our highly characterized ESR1 c.1613A>G (p.D538G) Homozygous Mutant Genomic DNA Reference Standard, designed to provide a solid and reliable benchmark for your experimental data.

This product is a rigorously quality-controlled and fully characterized genomic DNA reference material, targeting a critical point mutation in the ESR1 gene. This mutation involves an A to G nucleotide substitution at position 1613 in the cDNA (c.1613A>G), resulting in the replacement of aspartic acid with glycine at position 538 of the encoded protein (p.D538G).

The estrogen receptor encoded by the ESR1 gene is a primary driver in the pathogenesis of hormone receptor-positive breast cancer. The p.D538G mutation is one of the most prevalent and functionally significant acquired mutations in ESR1, strongly associated with resistance to endocrine therapies. Consequently, high-fidelity detection and study of this locus hold immense clinical and research value. This standard is provided in a homozygous state with a 100% allelic frequency, making it an ideal reference material for assay development, validation, and quality control.

Product Features

Precisely Defined Genotype

The product is unequivocally characterized as a c.1613A>G homozygous mutant, providing a reference material with an absolutely defined genotype.

High Purity and Integrity

Utilizing advanced purification processes, the genomic DNA ensures high purity and optimal integrity, verified by DNA electrophoresis to be free of significant degradation, ready for direct use in downstream applications.

Stringent Quality Control

Each batch undergoes thorough verification by Sanger sequencing and is supplied with a comprehensive Certificate of Analysis (COA), guaranteeing accurate mutation calling and high batch-to-batch consistency.

Excellent Stability

Supplied in a stable Tris-EDTA buffer, the standard remains stable for up to 36 months when stored at 2-8°C, ensuring long-term comparability and reproducibility of your results.

Clear Traceability and Compliance

Annotated strictly according to the NM_001122740.2 reference transcript, it adheres to international conventions, facilitating the comparison and exchange of research data across different platforms and laboratories.

Product Advantages

Enhances Assay Sensitivity and Specificity: Serves as an essential positive control for evaluating and optimizing the limit of detection (LOD) for various mutation detection platforms such as digital PCR, Next-Generation Sequencing, and ARMS-PCR.

Enables Laboratory Quality Standardization: An indispensable tool for internal quality control and external quality assessment, effectively monitoring the stability of your detection pipeline and identifying systematic errors.

Accelerates Assay Development and Validation: Provides a gold standard for validating newly established detection technologies or kit formulations, significantly shortening the method validation cycle and paving the way for the translation of research findings.

Ensures Reliable and Reproducible Results: Using a fully characterized standard helps prevent false-positive and false-negative results from the source, greatly enhancing the reliability of your research data and the credibility of your publications.

Saves Valuable Research Time and Cost: Eliminates the tedious process of sourcing, genotyping, and preparing your own mutation standards, allowing you to focus on core scientific inquiry.

Intended Applications

This ESR1 p.D538G standard is widely applicable in the following research scenarios:

Next-Generation Sequencing (NGS) Validation:

Acts as a positive control for NGS panels to verify the pipeline's ability to detect ESR1 mutations and to calibrate bioinformatics analysis workflows.

Digital PCR (dPCR) Quantification: Used to accurately assess the sensitivity, precision, and linear range of dPCR assays for the ESR1 mutation, particularly in the development of liquid biopsy assays for monitoring minimal residual disease in ctDNA.

PCR-Based Assay Kit Development: An indispensable positive reference material for the development, manufacturing, and quality control of ARMS-PCR, real-time PCR-based kits, and other PCR-based assays.

Laboratory Quality Control (QC) Systems: Serves as a routine positive control for monitoring the performance of the entire workflow, from nucleic acid extraction to final detection.

Bioinformatics and Data Analysis: Provides standard data with a known genotype for bioinformatics teams to use in algorithm training, pipeline optimization, and database construction.

Why Choose CB-Gene?

Focus and Expertise: We specialize in providing high-quality genetic variant standards, with a deep understanding of key cancer genes like ESR1. Our products are designed to address critical research needs directly.

Quality by Design: Quality is controlled at every step. We provide not just a product, but a commitment to data accuracy and reliability.

Comprehensive Technical Support: Detailed technical data sheets, Certificates of Analysis (COA), and Sanger sequencing chromatograms are provided, ensuring full data transparency for your confidence.

Exceptional Value: We are committed to providing top-tier reference standards at a reasonable price, supporting the advancement of precision medicine research globally.

FAQ

Where can I find the concentration and purity data for this standard?

The specific concentration, purity, and DNA electrophoresis gel image are available in the corresponding Certificate of Analysis (COA), which can be downloaded from our website. The COA provides the authoritative quality control data for your batch.

Can this standard be used for in vitro diagnostics or clinical diagnosis?

No. This product is clearly labeled "For Research Use Only." It is not intended for use in diagnostic procedures, clinical decision-making, or any other medical purposes. Please strictly adhere to the product's intended use.

What is the clinical significance of the p.D538G mutation in breast cancer?

The p.D538G is a key mutation within the ligand-binding domain of the ESR1 gene. It can confer constitutive activation of the estrogen receptor even in the absence of estrogen, promoting tumor growth and driving resistance to aromatase inhibitors and other endocrine therapies. Therefore, detecting this mutation is crucial for guiding subsequent treatment strategies (e.g., switching to SERDs or other targeted agents) in patients with advanced breast cancer.

Why is a homozygous standard provided instead of a heterozygous one?

A homozygous standard (100% allelic frequency) offers unique advantages in assay development and validation. It provides an unambiguous confirmation of the assay's ability to identify the mutant sequence and serves as a "stress test" for evaluating assay sensitivity. Furthermore, it is the foundational material for creating heterozygous standards (e.g., 50% allelic frequency)

How should the product be stored and handled upon receipt?

Upon receipt, store the product at 2-8°C. Before use, briefly centrifuge the tube and mix the contents gently. To avoid DNA degradation from repeated freeze-thaw cycles, we recommend aliquoting the solution based on your typical working volumes.

Technical Data

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If you have any questions, please feel free to contact us at sales@cb-gene.com