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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorAftimos, Philippe
dc.contributor.authorAntunes de Melo Oliveira, Ana Mafalda
dc.contributor.authorIrrthum, Alexandre
dc.contributor.authorFumagalli, Debora
dc.contributor.authorSotiriou, Christos
dc.contributor.authorGal-Yam, Einav Nili
dc.date.accessioned2022-02-22T11:32:55Z
dc.date.available2022-02-22T11:32:55Z
dc.date.issued2021-11
dc.identifier.citationAftimos P, Oliveira M, Irrthum A, Fumagalli D, Sotiriou C, Gal-Yam EN, et al. Genomic and transcriptomic analyses of breast cancer primaries and matched metastases in AURORA, the Breast International Group (BIG) molecular screening initiative. Cancer Discov. 2021 Nov;11(11):2796–2811.
dc.identifier.issn1473-1150
dc.identifier.urihttp://hdl.handle.net/11351/7064
dc.descriptionBreast Cancer; Genomic and Transcriptomic
dc.description.abstractAURORA aims to study the processes of relapse in metastatic breast cancer (MBC) by performing multi-omics profiling on paired primary tumors and early-course metastases. Among 381 patients (primary tumor and metastasis pairs: 252 targeted gene sequencing, 152 RNA sequencing, 67 single nucleotide polymorphism arrays), we found a driver role for GATA1 and MEN1 somatic mutations. Metastases were enriched in ESR1, PTEN, CDH1, PIK3CA, and RB1 mutations; MDM4 and MYC amplifications; and ARID1A deletions. An increase in clonality was observed in driver genes such as ERBB2 and RB1. Intrinsic subtype switching occurred in 36% of cases. Luminal A/B to HER2-enriched switching was associated with TP53 and/or PIK3CA mutations. Metastases had lower immune score and increased immune-permissive cells. High tumor mutational burden correlated to shorter time to relapse in HR+/HER2− cancers. ESCAT tier I/II alterations were detected in 51% of patients and matched therapy was used in 7%. Integration of multi-omics analyses in clinical practice could affect treatment strategies in MBC.
dc.language.isoeng
dc.publisherAmerican Association for Cancer Research
dc.relation.ispartofseriesCancer Discovery;11(11)
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceScientia
dc.subjectMama - Càncer - Aspectes genètics
dc.subjectMetàstasi
dc.subjectMama - Càncer - Recaiguda
dc.subject.meshBreast Neoplasms
dc.subject.mesh/genetics
dc.subject.meshNeoplasm Metastasis
dc.subject.meshRecurrence
dc.titleGenomic and Transcriptomic Analyses of Breast Cancer Primaries and Matched Metastases in AURORA, the Breast International Group (BIG) Molecular Screening Initiative
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1158/2159-8290.CD-20-1647
dc.subject.decsneoplasias de la mama
dc.subject.decs/genética
dc.subject.decsmetástasis neoplásica
dc.subject.decsrecurrencia
dc.relation.publishversionhttps://doi.org/10.1158/2159-8290.CD-20-1647
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Aftimos P, Sotiriou C] Institut Jules Bordet – Université Libre de Bruxelles, Brussels, Belgium. [Oliveira M] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Irrthum A, Fumagalli D] Breast International Group, Brussels, Belgium. [Gal-Yam EN] Sheba Medical Center, Ramat Gan, Israel
dc.identifier.pmid34183353
dc.identifier.wos000655540100001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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