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

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...

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Autores principales: Lee, Nuri, Park, Min-Jeong, Song, Wonkeun, Jeon, Kibum, Jeong, Seri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7699999/
https://www.ncbi.nlm.nih.gov/pubmed/33233830
http://dx.doi.org/10.3390/ijms21228807
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author Lee, Nuri
Park, Min-Jeong
Song, Wonkeun
Jeon, Kibum
Jeong, Seri
author_facet Lee, Nuri
Park, Min-Jeong
Song, Wonkeun
Jeon, Kibum
Jeong, Seri
author_sort Lee, Nuri
collection PubMed
description 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.
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spelling pubmed-76999992020-11-29 Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer Lee, Nuri Park, Min-Jeong Song, Wonkeun Jeon, Kibum Jeong, Seri Int J Mol Sci Review 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. MDPI 2020-11-20 /pmc/articles/PMC7699999/ /pubmed/33233830 http://dx.doi.org/10.3390/ijms21228807 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Lee, Nuri
Park, Min-Jeong
Song, Wonkeun
Jeon, Kibum
Jeong, Seri
Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer
title Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer
title_full Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer
title_fullStr Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer
title_full_unstemmed Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer
title_short Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer
title_sort currently applied molecular assays for identifying esr1 mutations in patients with advanced breast cancer
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7699999/
https://www.ncbi.nlm.nih.gov/pubmed/33233830
http://dx.doi.org/10.3390/ijms21228807
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