A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers

Anthony Ferrari 1 Anne Vincent-Salomon 2 Xavier Pivot 3 Anne-Sophie Sertier 1 Emile Thomas 1 Laurie Tonon 1 Sandrine Boyault 1 Eskeatnaf Mulugeta 2 Isabelle Treilleux 1 Gaëtan Macgrogan 4 Laurent Arnould 5, 6 Janice Kielbassa 1 Vincent Le Texier 1 Hélène Blanché 7 Jean-François Deleuze 7 Jocelyne Jacquemier 8 Marie-Christine Mathieu 9 Frédérique Penault-Llorca 10 Frédéric Bibeau 11 Maria Mariani 12 Cécile Mannina 13 Jean-Yves Pierga 14, 15 Olivier Trédan 1 Thomas Bachelot 16 Hervé Bonnefoi 4 Gilles Romieu 11 Pierre Fumoleau 17 Suzette Delaloge 18 Maria Rios 19 Jean-Marc Ferrero 20 Carole Tarpin 21 Catherine Bouteille 22 Fabien Calvo 23 Ivo Glynne Gut 24 Marta Gut 24 Sancha Martin 25 Serena Nik-Zainal 25 Michael R. Stratton 25 Iris Pauporté 26 Pierre Saintigny 27 Daniel Birnbaum 21 Alain Viari 1, 28 Gilles Thomas 27
18 Pathologie mammaire
Département de médecine oncologique [Gustave Roussy]
Abstract : 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.
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Anthony Ferrari, Anne Vincent-Salomon, Xavier Pivot, Anne-Sophie Sertier, Emile Thomas, et al.. A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers. Nature Communications, Nature Publishing Group, 2016, 7, pp.Article number: 12222. ⟨10.1038/ncomms12222⟩. ⟨hal-01388446⟩

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