ESR1 amplification in breast cancer by optimized RNase FISH

Frequent but low-level and heterogeneous

Cathy B. Moelans, Frederik Holst, Olaf Hellwinke, Ronald Simon, Paul J. Van Diest

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Article numbere84189
JournalPLoS One
Volume8
Issue number12
DOIs
StatePublished - Dec 18 2013
Externally publishedYes

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Multiplex Polymerase Chain Reaction
Ribonucleases
breast neoplasms
probes (equipment)
Amplification
Breast Neoplasms
gene dosage
Microdissection
Gene Dosage
RNA Precursors
Artifacts
lasers
Lasers
neoplasms
Tumors
Neoplasms
Genes

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

ESR1 amplification in breast cancer by optimized RNase FISH : Frequent but low-level and heterogeneous. / Moelans, Cathy B.; Holst, Frederik; Hellwinke, Olaf; Simon, Ronald; Van Diest, Paul J.

In: PLoS One, Vol. 8, No. 12, e84189, 18.12.2013.

Research output: Contribution to journalArticle

Moelans, Cathy B. ; Holst, Frederik ; Hellwinke, Olaf ; Simon, Ronald ; Van Diest, Paul J. / ESR1 amplification in breast cancer by optimized RNase FISH : Frequent but low-level and heterogeneous. In: PLoS One. 2013 ; Vol. 8, No. 12.
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