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dc.contributor.authorFerrari, Anthony
dc.contributor.authorVincent-Salomon, Anne
dc.contributor.authorPivot, Xavier
dc.contributor.authorSertier, Anne-Sophie
dc.contributor.authorThomas, Emilie
dc.contributor.authorTonon, Laurie
dc.contributor.authorBoyault, Sandrine
dc.contributor.authorMulugeta, Eskeatnaf
dc.contributor.authorTreilleux, Isabelle
dc.contributor.authorMacGrogan, Gaëtan
dc.contributor.authorArnould, Laurent
dc.contributor.authorKielbassa, Janice
dc.contributor.authorLe Texier, Vincent
dc.contributor.authorBlanché, Hélène
dc.contributor.authorDeleuze, Jean-François
dc.contributor.authorJacquemier, Jocelyne
dc.contributor.authorMathieu, Marie-Christine
dc.contributor.authorPenault-Llorca, Frédérique
dc.contributor.authorBibeau, Frédéric
dc.contributor.authorMariani, Odette
dc.contributor.authorMannina, Cécile
dc.contributor.authorPierga, Jean-Yves
dc.contributor.authorTrédan, Olivier
dc.contributor.authorBachelot, Thomas
dc.contributor.authorBonnefoi, Hervé
dc.contributor.authorRomieu, Gilles
dc.contributor.authorFumoleau, Pierre
dc.contributor.authorDelaloge, Suzette
dc.contributor.authorRios, Maria
dc.contributor.authorFerrero, Jean-Marc
dc.contributor.authorTarpin, Carole
dc.contributor.authorBouteille, Catherine
dc.contributor.authorCalvo, Fabien
dc.contributor.authorGut, Ivo Glynne
dc.contributor.authorGut, Marta
dc.contributor.authorMartin, Sancha
dc.contributor.authorNik-Zainal, Serena
dc.contributor.authorStratton, Michael R
dc.contributor.authorPauporté, Iris
dc.contributor.authorSaintigny, Pierre
dc.contributor.authorBirnbaum, Daniel
dc.contributor.authorViari, Alain
dc.contributor.authorThomas, Gilles
dc.date.accessioned2018-11-01T14:03:09Z
dc.date.available2018-11-01T14:03:09Z
dc.date.issued2016-07-13
dc.identifier.issn2041-1723
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/284511
dc.description.abstractHER2-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.
dc.format.mediumElectronic
dc.languageeng
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectReceptor, erbB-2
dc.subjectEstrogen Receptor alpha
dc.subjectReceptors, Progesterone
dc.subjectGene Expression Profiling
dc.subjectGene Amplification
dc.subjectMutation
dc.subjectPolymorphism, Single Nucleotide
dc.subjectFemale
dc.subjectDNA Copy Number Variations
dc.subjectTranscriptome
dc.subjectWhole Genome Sequencing
dc.titleA whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.
dc.typeArticle
prism.publicationDate2016
prism.publicationNameNat Commun
prism.startingPage12222
prism.volume7
dc.identifier.doi10.17863/CAM.31886
dcterms.dateAccepted2016-06-12
rioxxterms.versionofrecord10.1038/ncomms12222
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2016-07-13
dc.contributor.orcidNik-Zainal Abidin, Serena [0000-0001-5054-1727]
dc.identifier.eissn2041-1723
rioxxterms.typeJournal Article/Review
cam.issuedOnline2016-07-13


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International