{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Merlin JL"],"funding":["Seagen"],"pagination":["3164"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10740754"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(12)"],"pubmed_abstract":["Based on immunohistochemistry (IHC) and in situ hybridization (ISH), HER2-low breast cancers (BC) subtype-defined as IHC1+ or IHC2+/ISH- tumors-emerged and represent more than half of all BC. We evaluated the performance of NGS for integrated molecular characterization of HER2-low BC, including identification of actionable molecular targets, copy number variation (CNV), and microsatellite instability (MSI) analysis. Thirty-one BC specimens (11 HER2+, 10 HER2-, and 10 HER2-low) were routinely analyzed using IHC and ISH, and were selected and analyzed using NGS for gene mutations including <i>ESR1</i>, <i>PIK3CA</i>, <i>AKT1</i>, <i>ERBB2</i>, <i>TP53</i>, <i>BRCA1</i>, and <i>BRCA2</i>, CNV, and MSI. CNV values for the <i>ERBB2</i> gene were significantly (<i>p</i> < 0.001) different betwee"],"journal":["Biomedicines"],"pubmed_title":["Integrated Molecular Characterization of HER2-Low Breast Cancer Using Next Generation Sequencing (NGS)."],"pmcid":["PMC10740754"],"funding_grant_id":["FR-GD/2022/001"],"pubmed_authors":["Leroux A","Sahki N","Merlin JL","Massard V","Husson M","Harle A","Gilson P"],"additional_accession":[]},"is_claimable":false,"name":"Integrated Molecular Characterization of HER2-Low Breast Cancer Using Next Generation Sequencing (NGS).","description":"Based on immunohistochemistry (IHC) and in situ hybridization (ISH), HER2-low breast cancers (BC) subtype-defined as IHC1+ or IHC2+/ISH- tumors-emerged and represent more than half of all BC. We evaluated the performance of NGS for integrated molecular characterization of HER2-low BC, including identification of actionable molecular targets, copy number variation (CNV), and microsatellite instability (MSI) analysis. Thirty-one BC specimens (11 HER2+, 10 HER2-, and 10 HER2-low) were routinely analyzed using IHC and ISH, and were selected and analyzed using NGS for gene mutations including <i>ESR1</i>, <i>PIK3CA</i>, <i>AKT1</i>, <i>ERBB2</i>, <i>TP53</i>, <i>BRCA1</i>, and <i>BRCA2</i>, CNV, and MSI. CNV values for the <i>ERBB2</i> gene were significantly (<i>p</i> < 0.001) different betwee","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Nov","modification":"2025-05-18T13:06:33.784Z","creation":"2025-05-18T13:06:33.784Z"},"accession":"S-EPMC10740754","cross_references":{"pubmed":["38137385"],"doi":["10.3390/biomedicines11123164"]}}