ESR1 mutation detection in liquid biopsy samples

GALEAS™ uPCR: ESR1

A qPCR assay with the sensitivity of a digital PCR assay designed for detecting 11 key mutations in the estrogen receptor gene, ESR1.

The table of contents

Accuracy and Sensitivity of Digital PCR in a qPCR Assay

GALEAS™ uPCR: ESR1 detects 11 of the most prevalent mutations in the estrogen receptor gene, ESR1, known to be associated with endocrine therapy resistance.

The assay uses ultrasensitive PCR (uPCR), a Nonacus proprietary technology, to deliver improved sensitivity and specificity over standard qPCR that ensures no wild-type bleed through and data comparable to digital PCR.

Simple to use, and requiring no specialist equipment, it offers laboratories a fast and cost-effective method for the accurate and sensitive detection of ESR1 mutations.

Mutations in the ESR1 gene are known drivers of resistance to standard endocrine therapy and are present in up to 40% of ER+, HER2- metastatic breast cancers¹. Liquid biopsy studies have led to a greater understanding of the role these mutations play in resistance and clinical guidelines increasingly support the use of ESR1 testing in metastatic breast cancer².

ESR1 variants covered by GALEAS uPCR: ESR1
High Prevalence : E380Q, D53G, Y537S, Y537N
Low Prevalence : S463P, Y537C, L536H, L536R, P535H, L536Q, Y537D

Key Features

Detects 11 of the most prevalent mutations in the estrogen receptor gene, ESR1, known to be associated with endocrine therapy resistance
Developed for use with cell-free DNA (cfDNA)
Delivers improved sensitivity and specificity over standard qPCR
Simple to use, requires no specialist equipment

Performance

Assay sensitivity and specificity were tested using synthetic controls and commercially available reference standards containing multiple, known ESR1 variants

ESR1 mutations were detected with a specificity of ≥98% and a sensitivity of ≥90% at mutant allele frequencies (MAF) between 0.04% and 0.33%

Streamlined Workflows: Quick and Easy Protocols

Nonacus uPCR

Sample to data in under 3 hours:

Why Choose GALEAS™ uPCR: ESR1

Accurate and sensitive

Detect mutations in ESR1 with a specificity of ≥98% and a sensitivity of ≥90% at MAFs between 0.04% and 0.33%

Key variants covered

Detect 11 actionable variants in the ESR1 gene from cell-free DNA in plasma

Results in under 3 hours

A fast, simple qPCR protocol that requires no specialist equipment and can be deployed in almost any molecular laboratory

Product Specifications

Method	Qualitative qPCR Test
Number of Targets	11 ESR1 variants
Sample Type	Cell-free DNA (cfDNA)
Input Amount	1-25 ng
Kit Format	32 Reactions per Multiplex (accommodates 29 samples when running x 3 controls)
Controls	3 positive and 1 negative
Protocol Length	Under 3 hours