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Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer

1
Department of Laboratory Medicine, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07440, Korea
2
Department of Laboratory Medicine, Hangang Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07440, Korea
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(22), 8807; https://doi.org/10.3390/ijms21228807
Received: 27 October 2020 / Revised: 17 November 2020 / Accepted: 19 November 2020 / Published: 20 November 2020
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. View Full-Text
Keywords: estrogen receptor; ESR1; breast cancer; next-generation sequencing; droplet digital polymerase chain reaction estrogen receptor; ESR1; breast cancer; next-generation sequencing; droplet digital polymerase chain reaction
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Lee, N.; Park, M.-J.; Song, W.; Jeon, K.; Jeong, S. Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer. Int. J. Mol. Sci. 2020, 21, 8807.

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