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Breast cancer is a multifaceted disease that frequently necessitates
continuous oversight and management to achieve optimal patient
results with improved outcomes. Monitoring for the emergence of
resistance mutations, especially those in the Estrogen Receptor 1 (ESR1)
gene, offers important insights into tumor progression and treatment
efficacy.

We have developed a comprehensive methodology for targeted RTqPCR
monitoring of ESR1 mutations in plasma that utilizes both
exosomal RNA (exoRNA) and circulating cell-free DNA (cfDNA),
interrogates 11 of the most common and actionable mutations, provides
a streamlined workflow, and includes the incorporation of an
endogenous/internal control and external batch run control materials
(positive, negative) to ensure high-quality results.

We demonstrate consistent and specific RT-qPCR results between 0.1-
0.01% Minor Allele Frequency (MAF) depending on the total mutant
copies and mutation, congruent with ultrasensitive mutation detection
from plasma.

Our data showcased here supports routing testing of clinical samples
from PAXgene® Blood ccfDNA tubes or K2-EDTA tubes for 11 of the
most common and actionable ESR1 mutations, with results via a pushbutton
automated software within a single laboratory shift.

*This product is under development. Future availability and performance to be determined.

Presented at ESMO September 2024