ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous.

Prevalence of ESR1 amplification in breast cancer is highly disputed and discrepancies have been related to different technical protocols and different scoring approaches. In addition, pre-mRNA artifacts have been proposed to influence outcome of ESR1 FISH analysis. We analyzed ESR1 gene copy number...

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Autores principales: Cathy B Moelans, Frederik Holst, Olaf Hellwinkel, Ronald Simon, Paul J van Diest
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Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2013
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Acceso en línea:https://doaj.org/article/0f96661f173f4429996bf67558021dab
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spelling oai:doaj.org-article:0f96661f173f4429996bf67558021dab2021-11-18T08:41:15ZESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous.1932-620310.1371/journal.pone.0084189https://doaj.org/article/0f96661f173f4429996bf67558021dab2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24367641/?tool=EBIhttps://doaj.org/toc/1932-6203Prevalence of ESR1 amplification in breast cancer is highly disputed and discrepancies have been related to different technical protocols and different scoring approaches. In addition, pre-mRNA artifacts have been proposed to influence outcome of ESR1 FISH analysis. We analyzed ESR1 gene copy number status combining an improved RNase FISH protocol with multiplex ligation-dependent probe amplification (MLPA) after laser microdissection. FISH showed a high prevalence of ESR1 gains and amplifications despite RNase treatment but MLPA did not confirm ESR1 copy number increases detected by FISH in more than half of cases. We suggest that the combination of the ESR1-specific intra-tumor heterogeneity and low-level copy number increase accounts for these discrepancies.Cathy B MoelansFrederik HolstOlaf HellwinkelRonald SimonPaul J van DiestPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 12, p e84189 (2013)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Cathy B Moelans
Frederik Holst
Olaf Hellwinkel
Ronald Simon
Paul J van Diest
ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous.
description Prevalence of ESR1 amplification in breast cancer is highly disputed and discrepancies have been related to different technical protocols and different scoring approaches. In addition, pre-mRNA artifacts have been proposed to influence outcome of ESR1 FISH analysis. We analyzed ESR1 gene copy number status combining an improved RNase FISH protocol with multiplex ligation-dependent probe amplification (MLPA) after laser microdissection. FISH showed a high prevalence of ESR1 gains and amplifications despite RNase treatment but MLPA did not confirm ESR1 copy number increases detected by FISH in more than half of cases. We suggest that the combination of the ESR1-specific intra-tumor heterogeneity and low-level copy number increase accounts for these discrepancies.
format article
author Cathy B Moelans
Frederik Holst
Olaf Hellwinkel
Ronald Simon
Paul J van Diest
author_facet Cathy B Moelans
Frederik Holst
Olaf Hellwinkel
Ronald Simon
Paul J van Diest
author_sort Cathy B Moelans
title ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous.
title_short ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous.
title_full ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous.
title_fullStr ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous.
title_full_unstemmed ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous.
title_sort esr1 amplification in breast cancer by optimized rnase fish: frequent but low-level and heterogeneous.
publisher Public Library of Science (PLoS)
publishDate 2013
url https://doaj.org/article/0f96661f173f4429996bf67558021dab
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AT frederikholst esr1amplificationinbreastcancerbyoptimizedrnasefishfrequentbutlowlevelandheterogeneous
AT olafhellwinkel esr1amplificationinbreastcancerbyoptimizedrnasefishfrequentbutlowlevelandheterogeneous
AT ronaldsimon esr1amplificationinbreastcancerbyoptimizedrnasefishfrequentbutlowlevelandheterogeneous
AT pauljvandiest esr1amplificationinbreastcancerbyoptimizedrnasefishfrequentbutlowlevelandheterogeneous
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