Product Description

ESR1 reference set serves as a quality control material for ESR1 mutation assays on cell free DNA (cfDNA) level. The selection of mutations was reviewed and endorsed by various experts in the field and ESR1 test developers.

This product is suited for PCR and/or Next Generation Sequencing (NGS) assays.

Overview of vials and mutations:

Use as full workflow control material:

For full workflow controls we recommend using our DNA depleted plasma products. Blend the DNA as necessary with the DNA depleted plasma to receive plasma materials with the necessary DNA concentrations.

Link to the DNA free plasma products

Use at lower Variant allele frequencies:

If you want to test your lower limits of detection we recommend to use the wildtype control material provided with the set.

OEM options and more:

If you need materials as in kit controls or as a third party control for validation of your kits at customer labs, please contact us via: sales@sens-id.com

Use with LDTs for:

1. assessing test accuracy
2. verifying analytical sensitivity and specificity
3. validating new batches and reagents
4. ensuring quality assurance
5. troubleshooting errors
6. when developing and running LDTs for identifying therapeutically relevant mutations in DNA, the use of QCMs is especially important to guarantee the reliability of the results and patient safety.

Additional information:

According to results from the randomized phase III EMERALD Trial progression free survival (PFS) was prolonged in all patients (hazard ratio = 0.70; 95% CI, 0.55 to 0.88; P = .002) and patients with ESR1 mutation (hazard ratio = 0.55; 95% CI, 0.39 to 0.77; P = .0005). Elacestrant is the first oral selective ER degrader demonstrating a significant PFS improvement versus standard of care (SOC) both in the overall population and in patients with ESR1 mutations with manageable safety in a phase III trial for patients with ER-positive/HER2-negative advanced breast cancer (2).

Buffer:

Tris-EDTA (10 mM Tris, 1 mM EDTA), pH 8.0

Storage:
2-8 °C

Expiry:
stable for 24 months from date of manufacturing (as supplied)

Quality control

Fragmentation size:
Electrophoresis-Tape Station (Agilent)

Allelic Frequency:
dPCR (metrologically recognized primary reference measurement method) (3)

Quantification (metrologically traceable):

1. UV-Vis Spectrophotometry (NIST-Reference method)
2. Fluorometric dsDNA measurement (Qubit)

Technical background

Wild-type cfDNA for the above ESR1 mutations.

* GRCh38

Literature:

1. Clinical Implications of Monitoring ESR1 Mutations by Circulating Tumor DNA in Estrogen Receptor Positive Metastatic Breast Cancer: A Pilot Study
2. Elacestrant (oral selective estrogen receptor degrader) Versus Standard Endocrine Therapy for Estrogen Receptor-Positive, Human Epidermal Growth Factor Receptor 2-Negative Advanced Breast Cancer: Results From the Randomized Phase III EMERALD Trial
3. Assessment of Digital PCR as a Primary Reference Measurement Procedure to Support Advances in Precision Medicine