Ferrari, AnthonyGut, Ivo GlynneGut, MartaThomas, Gilles2023-12-192023-12-192016Ferrari A, Vincent-Salomon A, Pivot X, Sertier AS, Thomas E, Tonon L, et al. A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers. Nat Commun. 2016 Jul 13;7(1):12222. DOI: 10.1038/ncomms122222041-1723http://hdl.handle.net/10230/58571Supplementary materials files: online appendix; replication data.HER2-positive breast cancer has long proven to be a clinically distinct class of breast cancers for which several targeted therapies are now available. However, resistance to the treatment associated with specific gene expressions or mutations has been observed, revealing the underlying diversity of these cancers. Therefore, understanding the full extent of the HER2-positive disease heterogeneity still remains challenging. Here we carry out an in-depth genomic characterization of 64 HER2-positive breast tumour genomes that exhibit four subgroups, based on the expression data, with distinctive genomic features in terms of somatic mutations, copy-number changes or structural variations. The results suggest that, despite being clinically defined by a specific gene amplification, HER2-positive tumours melt into the whole luminal–basal breast cancer spectrum rather than standing apart. The results also lead to a refined ERBB2 amplicon of 106 kb and show that several cases of amplifications are compatible with a breakage–fusion–bridge mechanism.application/pdfeng© The Author(s) 2016. This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.Mama -- CàncerGenomesImmunoglobulinesinfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1038/ncomms12222info:eu-repo/semantics/openAccess