Arnould, Laurent

Bachelot, Thomas

Bibeau, Frédéric

Birnbaum, Daniel

Blanché, Hélène

Bonnefoi, Hervé

Bouteille, Catherine

Boyault, Sandrine

Calvo, Fabien

Delaloge, Suzette

Deleuze, Jean-François

Ferrari, Anthony

Ferrero, Jean-Marc

Fumoleau, Pierre

Gut, Ivo Glynne

Gut, Marta

Jacquemier, Jocelyne

Kielbassa, Janice

Le Texier, Vincent

MacGrogan, Gaëtan

Mannina, Cécile

Mariani, Odette

Martin, Sancha

Mathieu, Marie-Christine

Mulugeta, Eskeatnaf

Nik-Zainal Abidin, Serena

Pauporté, Iris

Penault-Llorca, Frédérique

Pierga, Jean-Yves

Pivot, Xavier

Rios, Maria

Romieu, Gilles

Saintigny, Pierre

Sertier, Anne-Sophie

Stratton, Michael R

Tarpin, Carole

Thomas, Emilie

Thomas, Gilles

Tonon, Laurie

Treilleux, Isabelle

Trédan, Olivier

Viari, Alain

Vincent-Salomon, Anne

English

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

Nik-Zainal, Serena

Apollo (Cambridge)

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

https://www.repository.cam.ac.uk/bitstream/handle/1810/284511/A%20whole-genome%20sequence%20and%20transcriptome%20perspective%20on%20HER2-positive%20breast%20cancers.pdf?sequence=1&isAllowed=y

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

Abstract

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