ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous
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ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous. / Moelans, Cathy B; Holst, Frederik; Hellwinkel, Olaf; Simon, Ronald; van Diest, Paul J.
in: PLOS ONE, Jahrgang 8, Nr. 12, 01.01.2013, S. e84189.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous
AU - Moelans, Cathy B
AU - Holst, Frederik
AU - Hellwinkel, Olaf
AU - Simon, Ronald
AU - van Diest, Paul J
PY - 2013/1/1
Y1 - 2013/1/1
N2 - 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.
AB - 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.
U2 - 10.1371/journal.pone.0084189
DO - 10.1371/journal.pone.0084189
M3 - SCORING: Journal article
C2 - 24367641
VL - 8
SP - e84189
JO - PLOS ONE
JF - PLOS ONE
SN - 1932-6203
IS - 12
ER -