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

Anthony Ferrari; Anne Vincent-Salomon; Xavier Pivot; Anne Sophie Sertier; Emilie Thomas; Laurie Tonon; Sandrine Boyault; Eskeatnaf Mulugeta; Isabelle Treilleux; Gaëtan MacGrogan; Laurent Arnould; Janice Kielbassa; Vincent Le Texier; Hélène Blanché; Jean François Deleuze; Jocelyne Jacquemier; Marie Christine Mathieu; Frédérique Penault-Llorca; Frédéric Bibeau; Odette Mariani; Cécile Mannina; Jean Yves Pierga; Olivier Trédan; Thomas Bachelot; Hervé Bonnefoi; Gilles Romieu; Pierre Fumoleau; Suzette Delaloge; Maria Rios; Jean Marc Ferrero; Carole Tarpin; Catherine Bouteille; Fabien Calvo; Ivo Glynne Gut; Marta Gut; Sancha Martin; Serena Nik-Zainal; Michael R. Stratton; Iris Pauporté; Pierre Saintigny; Daniel Birnbaum; Alain Viari; Gilles Thomas

doi:10.1038/ncomms12222

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

Anthony Ferrari, Anne Vincent-Salomon, Xavier Pivot, Anne Sophie Sertier, Emilie Thomas, Laurie Tonon, Sandrine Boyault, Eskeatnaf Mulugeta, Isabelle Treilleux, Gaëtan MacGrogan, Laurent Arnould, Janice Kielbassa, Vincent Le Texier, Hélène Blanché, Jean François Deleuze, Jocelyne Jacquemier, Marie Christine Mathieu, Frédérique Penault-Llorca, Frédéric Bibeau, Odette MarianiCécile Mannina, Jean Yves Pierga, Olivier Trédan, Thomas Bachelot, Hervé Bonnefoi, Gilles Romieu, Pierre Fumoleau, Suzette Delaloge, Maria Rios, Jean Marc Ferrero, Carole Tarpin, Catherine Bouteille, Fabien Calvo, Ivo Glynne Gut, Marta Gut, Sancha Martin, Serena Nik-Zainal, Michael R. Stratton, Iris Pauporté, Pierre Saintigny, Daniel Birnbaum, Alain Viari, Gilles Thomas

Résultats de recherche: Contribution à un journal › Article › Revue par des pairs

113 Citations (Scopus)

Résumé

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.

langue originale	Anglais
Numéro d'article	12222
journal	Nature Communications
Volume	7
Les DOIs	https://doi.org/10.1038/ncomms12222
état	Publié - 13 juil. 2016

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10.1038/ncomms12222

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Ferrari, A., Vincent-Salomon, A., Pivot, X., Sertier, A. S., Thomas, E., Tonon, L., Boyault, S., Mulugeta, E., Treilleux, I., MacGrogan, G., Arnould, L., Kielbassa, J., Le Texier, V., Blanché, H., Deleuze, J. F., Jacquemier, J., Mathieu, M. C., Penault-Llorca, F., Bibeau, F., ... Thomas, G. (2016). A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers. Nature Communications, 7, Article 12222. https://doi.org/10.1038/ncomms12222

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title = "A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers",

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.",

author = "Anthony Ferrari and Anne Vincent-Salomon and Xavier Pivot and Sertier, {Anne Sophie} and Emilie Thomas and Laurie Tonon and Sandrine Boyault and Eskeatnaf Mulugeta and Isabelle Treilleux and Ga{\"e}tan MacGrogan and Laurent Arnould and Janice Kielbassa and {Le Texier}, Vincent and H{\'e}l{\`e}ne Blanch{\'e} and Deleuze, {Jean Fran{\c c}ois} and Jocelyne Jacquemier and Mathieu, {Marie Christine} and Fr{\'e}d{\'e}rique Penault-Llorca and Fr{\'e}d{\'e}ric Bibeau and Odette Mariani and C{\'e}cile Mannina and Pierga, {Jean Yves} and Olivier Tr{\'e}dan and Thomas Bachelot and Herv{\'e} Bonnefoi and Gilles Romieu and Pierre Fumoleau and Suzette Delaloge and Maria Rios and Ferrero, {Jean Marc} and Carole Tarpin and Catherine Bouteille and Fabien Calvo and Gut, {Ivo Glynne} and Marta Gut and Sancha Martin and Serena Nik-Zainal and Stratton, {Michael R.} and Iris Pauport{\'e} and Pierre Saintigny and Daniel Birnbaum and Alain Viari and Gilles Thomas",

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Ferrari, A, Vincent-Salomon, A, Pivot, X, Sertier, AS, Thomas, E, Tonon, L, Boyault, S, Mulugeta, E, Treilleux, I, MacGrogan, G, Arnould, L, Kielbassa, J, Le Texier, V, Blanché, H, Deleuze, JF, Jacquemier, J, Mathieu, MC, Penault-Llorca, F, Bibeau, F, Mariani, O, Mannina, C, Pierga, JY, Trédan, O, Bachelot, T, Bonnefoi, H, Romieu, G, Fumoleau, P, Delaloge, S, Rios, M, Ferrero, JM, Tarpin, C, Bouteille, C, Calvo, F, Gut, IG, Gut, M, Martin, S, Nik-Zainal, S, Stratton, MR, Pauporté, I, Saintigny, P, Birnbaum, D, Viari, A & Thomas, G 2016, 'A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers', Nature Communications, VOL. 7, 12222. https://doi.org/10.1038/ncomms12222

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AU - Vincent-Salomon, Anne

AU - Pivot, Xavier

AU - Sertier, Anne Sophie

AU - Thomas, Emilie

AU - Tonon, Laurie

AU - Boyault, Sandrine

AU - Mulugeta, Eskeatnaf

AU - Treilleux, Isabelle

AU - MacGrogan, Gaëtan

AU - Arnould, Laurent

AU - Kielbassa, Janice

AU - Le Texier, Vincent

AU - Blanché, Hélène

AU - Deleuze, Jean François

AU - Jacquemier, Jocelyne

AU - Mathieu, Marie Christine

AU - Penault-Llorca, Frédérique

AU - Bibeau, Frédéric

AU - Mariani, Odette

AU - Mannina, Cécile

AU - Pierga, Jean Yves

AU - Trédan, Olivier

AU - Bachelot, Thomas

AU - Bonnefoi, Hervé

AU - Romieu, Gilles

AU - Fumoleau, Pierre

AU - Delaloge, Suzette

AU - Rios, Maria

AU - Ferrero, Jean Marc

AU - Tarpin, Carole

AU - Bouteille, Catherine

AU - Calvo, Fabien

AU - Gut, Ivo Glynne

AU - Gut, Marta

AU - Martin, Sancha

AU - Nik-Zainal, Serena

AU - Stratton, Michael R.

AU - Pauporté, Iris

AU - Saintigny, Pierre

AU - Birnbaum, Daniel

AU - Viari, Alain

AU - Thomas, Gilles

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AB - 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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