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Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer
Nuri Lee1, Min-Jeong Park1, Wonkeun Song1
1Department of Laboratory Medicine, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07440, Korea.
Abstract:
Approximately 70% of breast cancers, the leading cause of cancer-related mortality worldwide, are positive for the estrogen receptor (ER). Treatment of patients with luminal subtypes is mainly based on endocrine therapy. However, ER positivity is reduced and ESR1 mutations play an important role in resistance to endocrine therapy, leading to advanced breast cancer. Various methodologies for the detection of ESR1 mutations have been developed, and the most commonly used method is next-generation sequencing (NGS)-based assays (50.0%) followed by droplet digital PCR (ddPCR) (45.5%). Regarding the sample type, tissue (50.0%) was more frequently used than plasma (27.3%). However, plasma (46.2%) became the most used method in 2016-2019, in contrast to 2012-2015 (22.2%). In 2016-2019, ddPCR (61.5%), rather than NGS (30.8%), became a more popular method than it was in 2012-2015. The easy accessibility, non-invasiveness, and demonstrated usefulness with high sensitivity of ddPCR using plasma have changed the trends. When using these assays, there should be a comprehensive understanding of the principles, advantages, vulnerability, and precautions for interpretation. In the future, advanced NGS platforms and modified ddPCR will benefit patients by facilitating treatment decisions efficiently based on information regarding ESR1 mutations.
Insights
Estrogen receptor mutations in breast cancer drive endocrine resistance. Droplet digital PCR (ddPCR) using plasma is increasingly preferred over tissue-based next-generation sequencing (NGS) for detecting these critical ESR1 mutations.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Estrogen receptor (ER)-positive breast cancer accounts for ~70% of cases and is primarily treated with endocrine therapy.
- ER positivity decreases, and ESR1 mutations contribute to endocrine therapy resistance, leading to advanced breast cancer.
- Accurate detection of ESR1 mutations is crucial for guiding treatment decisions in ER-positive breast cancer.
Purpose of the Study:
- To review methodologies for detecting ESR1 mutations in breast cancer.
- To analyze trends in assay types and sample sources for ESR1 mutation detection.
- To highlight the shift towards non-invasive plasma-based ddPCR for improved detection and treatment guidance.
Main Methods:
- Review of methodologies including next-generation sequencing (NGS) and droplet digital PCR (ddPCR).
- Analysis of sample types used, comparing tissue versus plasma.
- Examination of temporal trends in assay and sample type utilization (2012-2019).
Main Results:
- NGS was initially dominant (50.0%), followed by ddPCR (45.5%).
- Plasma use increased significantly from 22.2% (2012-2015) to 46.2% (2016-2019).
- ddPCR became the preferred method (61.5%) over NGS (30.8%) in 2016-2019, particularly with plasma samples.
Conclusions:
- The non-invasive nature, accessibility, and high sensitivity of plasma-based ddPCR have shifted detection trends.
- Understanding assay principles, advantages, and limitations is vital for accurate interpretation.
- Future advancements in NGS and ddPCR will enhance treatment decisions based on ESR1 mutation status.
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