Liquid biopsy as a diagnostic and prognostic tool for women and female dogs with breast cancer

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dc.contributor.authorColombo, Jucimara
dc.contributor.authorMoschetta-Pinheiro, Marina Gobbe
dc.contributor.authorNovais, Adriana Alonso
dc.contributor.authorStoppe, Bruna Ribeiro
dc.contributor.authorBonini, Enrico Dumbra
dc.contributor.authorGonçalves, Francine Moraes
dc.contributor.authorFukumasu, Heidge
dc.contributor.authorCoutinho, Luiz Lehmann
dc.contributor.authorChuffa, Luiz Gustavo de Almeida [UNESP]
dc.contributor.authorZuccari, Debora Aparecida Pires de Campos
dc.contributor.institutionFaculdade de Medicina de São José
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.date.accessioned2022-05-01T09:47:15Z
dc.date.available2022-05-01T09:47:15Z
dc.date.issued2021-10-01
dc.description.abstractIntroduction: Breast cancer (BC) is the malignant neoplasm with the highest mortality rate in women and female dogs are good models to study BC. Objective: We investigated the efficacy of liquid biopsy to detect gene mutations in the diagnosis and follow-up of women and female dogs with BC. Materials and Methods: In this study, 57 and 37 BC samples were collected from women and female dogs, respectively. After core biopsy and plasma samples were collected, the DNA and ctDNA of the tumor fragments and plasma were processed for next generation sequencing (NGS) assay. After preprocessing of the data, they were submitted to the Genome Analysis ToolKit (GATK). Results: In women, 1788 variants were identified in tumor fragments and 221 variants in plasma; 66 variants were simultaneously detected in tumors and plasma. Conversely, in female dogs, 1430 variants were found in plasma and 695 variants in tumor fragments; 59 variants were simultaneously identified in tumors and plasma. The most frequently mutated genes in the tumor fragments of women were USH2A, ATM, and IGF2R; in female dogs, they were USH2A, BRCA2, and RRM2. Plasma of women showed the most frequent genetic variations in the MAP3K1, BRCA1, and GRB7 genes, whereas plasma from female dogs had variations in the NF1, ERBB2, and KRT17 genes. Mutations in the AKT1, PIK3CA, and BRIP genes were associated with tumor recurrence, with a highly pathogenic variant in PIK3CA being particularly prominent. We also detected a gain-of-function mutation in the GRB7, MAP3K1, and MLH1 genes. Conclusion: Liquid biopsy is useful to identify specific genetic variations at the beginning of BC manifestation and may be accompanied over the entire follow-up period, thereby supporting the clinicians in refining interventions.en
dc.description.affiliationLaboratory of Molecular Investigation in Cancer (LIMC) Department of Molecular Biology Faculdade de Medicina de São José
dc.description.affiliationLaboratory of Comparative and Translational Oncology (LOCT) Department of Veterinary Medicine Faculty of Animal Science and Food Engineering University of Sao Paulo
dc.description.affiliationLuiz de Queiroz College of Agriculture (ESALQ) University of São Paulo
dc.description.affiliationDepartment of Structural and Functional Biology Institute of Biosciences of Botucatu Universidade Estadual Paulista
dc.description.affiliationUnespDepartment of Structural and Functional Biology Institute of Biosciences of Botucatu Universidade Estadual Paulista
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipIdFAPESP: 2017/15006-5
dc.identifierhttp://dx.doi.org/10.3390/cancers13205233
dc.identifier.citationCancers, v. 13, n. 20, 2021.
dc.identifier.doi10.3390/cancers13205233
dc.identifier.issn2072-6694
dc.identifier.scopus2-s2.0-85117180080
dc.identifier.urihttp://hdl.handle.net/11449/233681
dc.language.isoeng
dc.relation.ispartofCancers
dc.sourceScopus
dc.subjectBreast cancer
dc.subjectCirculating tumor DNA (ctDNA)
dc.subjectGene variant
dc.subjectLiquid biopsy
dc.subjectNext generation sequencing (NGS)
dc.titleLiquid biopsy as a diagnostic and prognostic tool for women and female dogs with breast canceren
dc.typeArtigo

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