A Kit Targeting Detection of ESR1 Mutations From Circulating Exosomal RNA and Cell-Free DNA Supports Longitudinal Studies Into Endocrine Therapy Resistance in a Broadly Accessible RT-qPCR Format
Summary
- Breast cancer is a complex disease often requiring ongoing monitoring and management to ensure the best possible patient outcomes. Monitoring for genetic mutations, including those in the Estrogen Receptor 1 (ESR1) gene, provides valuable information about tumor progression and response to treatment for select cases.
- We describe a comprehensive methodology for targeted clinical RTqPCR monitoring of ESR1 mutations in plasma that utilizes both exosomal RNA (exoRNA) and circulating cell-free DNA (cfDNA), interrogates 11 mutations, provides a streamlined workflow, and includes the incorporation of an endogenous/internal control and external batch run control materials (positive, negative) to ensure highquality results.
- We demonstrate consistent and specific RT-qPCR across 2 users at our expected Limit of Detection of 0.1% MAF, congruent with ultra-sensitive mutation detection from plasma.
- Residual clinical sample testing supports the feasibility of the QuantideX® qPCR ESR1 exoMutation Kit*, focusing on subjects with stage IV metastatic breast cancer (mBC)(HR+/HER2-) on active aromatase inhibitor therapy, +/-CDK 4/6 inhibitor for at least one year.
*This product is under development. Future availability and performance to be determined.
Presented at AACR April 2