Inflammatory breast cancer: Clinical implications of genomic alterations and mutational profiling

Registro completo de metadados
MetadadosDescriçãoIdioma
Autor(es): dc.contributorA.C.Camargo Cancer Center-
Autor(es): dc.contributorUniversity Hospital of Southern Denmark-
Autor(es): dc.contributorUniversity of Brasília-UnB-
Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.contributorUniversity of Southern Denmark-
Autor(es): dc.contributorPio XII Foundation-
Autor(es): dc.contributorMolecular Oncology Research Center-
Autor(es): dc.contributorTechnical University of Munich-
Autor(es): dc.contributorDiagnósticos da América (DASA)-
Autor(es): dc.creatorFaldoni, Flávia L. C.-
Autor(es): dc.creatorVillacis, Rolando A. R.-
Autor(es): dc.creatorCanto, Luisa M.-
Autor(es): dc.creatorFonseca-Alves, Carlos E. [UNESP]-
Autor(es): dc.creatorCury, Sarah S. [UNESP]-
Autor(es): dc.creatorLarsen, Simon J.-
Autor(es): dc.creatorAagaard, Mads M.-
Autor(es): dc.creatorSouza, Cristiano P.-
Autor(es): dc.creatorScapulatempo-Neto, Cristovam-
Autor(es): dc.creatorOsório, Cynthia A. B. T.-
Autor(es): dc.creatorBaumbach, Jan-
Autor(es): dc.creatorMarchi, Fabio A.-
Autor(es): dc.creatorRogatto, Silvia R.-
Data de aceite: dc.date.accessioned2022-02-22T00:47:35Z-
Data de disponibilização: dc.date.available2022-02-22T00:47:35Z-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2020-10-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.3390/cancers12102816-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/206598-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/206598-
Descrição: dc.descriptionInflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer whose molecular basis is poorly understood. We performed a comprehensive molecular analysis of 24 IBC biopsies naïve of treatment, using a high-resolution microarray platform and targeted next-generation sequencing (105 cancer-related genes). The genes more frequently affected by gains were MYC (75%) and MDM4 (71%), while frequent losses encompassed TP53 (71%) and RB1 (58%). Increased MYC and MDM4 protein expression levels were detected in 18 cases. These genes have been related to IBC aggressiveness, and MDM4 is a potential therapeutic target in IBC. Functional enrichment analysis revealed genes associated with inflammatory regulation and immune response. High homologous recombination (HR) deficiency scores were detected in triple-negative and metastatic IBC cases. A high telomeric allelic imbalance score was found in patients having worse overall survival (OS). The mutational profiling was compared with non-IBC (TCGA, n = 250) and IBC (n = 118) from four datasets, validating our findings. Higher frequency of TP53 and BRCA2 variants were detected compared to non-IBC, while PIKC3A showed similar frequency. Variants in mismatch repair and HR genes were associated with worse OS. Our study provided a framework for improved diagnosis and therapeutic alternatives for this aggressive tumor type.-
Descrição: dc.descriptionInternational Research Center A.C.Camargo Cancer Center-
Descrição: dc.descriptionDepartment of Clinical Genetics University Hospital of Southern Denmark-
Descrição: dc.descriptionDepartment of Genetics and Morphology Institute of Biological Sciences University of Brasília-UnB-
Descrição: dc.descriptionDepartment of Veterinary Surgery and Anesthesiology School of Veterinary Medicine and Animal Science São Paulo State University-UNESP-
Descrição: dc.descriptionDepartment of Structural and Functional Biology Institute of Biosciences São Paulo State University-UNESP-
Descrição: dc.descriptionDepartment of Mathematics and Computer Science University of Southern Denmark-
Descrição: dc.descriptionDepartment of Breast and Gynecologic Oncology Barretos Cancer Hospital Pio XII Foundation-
Descrição: dc.descriptionMolecular Oncology Research Center-
Descrição: dc.descriptionDepartment of Pathology A.C.Camargo Cancer Center-
Descrição: dc.descriptionTUM School of Life Sciences Weihenstephan Technical University of Munich-
Descrição: dc.descriptionInstitute of Regional Health Research University of Southern Denmark-
Descrição: dc.descriptionDiagnósticos da América (DASA)-
Descrição: dc.descriptionDepartment of Veterinary Surgery and Anesthesiology School of Veterinary Medicine and Animal Science São Paulo State University-UNESP-
Descrição: dc.descriptionDepartment of Structural and Functional Biology Institute of Biosciences São Paulo State University-UNESP-
Formato: dc.format1-21-
Idioma: dc.languageen-
Relação: dc.relationCancers-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectCopy number alterations-
Palavras-chave: dc.subjectGene variants-
Palavras-chave: dc.subjectGenomic scars-
Palavras-chave: dc.subjectHomologous recombination deficiency-
Palavras-chave: dc.subjectInflammatory breast cancer-
Palavras-chave: dc.subjectMicroarray-
Título: dc.titleInflammatory breast cancer: Clinical implications of genomic alterations and mutational profiling-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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