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dc.contributor.authorJiménez-Rodríguez, Begoña
dc.contributor.authorAlba-Bernal, Alfonso
dc.contributor.authorLópez-López, Esperanza
dc.contributor.authorQuirós-Ortega, María Elena
dc.contributor.authorCarbajosa, Guillermo
dc.contributor.authorGarrido-Aranda, Alicia
dc.contributor.authorÁlvarez-Pérez, Martina
dc.contributor.authorGodoy-Ortiz, Ana
dc.contributor.authorQueipo-Ortuño, María Isabel 
dc.contributor.authorVicioso-Recio, Luis Prudencio 
dc.contributor.authorDíaz-Córdoba, Gema
dc.contributor.authorRoldán-Díaz, María Dunia
dc.contributor.authorVelasco-Suelto, Jesús
dc.contributor.authorHernando Melia, Cristina
dc.contributor.authorBermejo, Begoña
dc.contributor.authorJulve-Parreño, Ana
dc.contributor.authorLluch, Ana
dc.contributor.authorPascual, Javier
dc.contributor.authorComino-Méndez, Iñaki
dc.contributor.authorAlba-Conejo, Emilio 
dc.date.accessioned2023-02-16T08:01:13Z
dc.date.available2023-02-16T08:01:13Z
dc.date.issued2022-12-21
dc.identifier.citationJiménez-Rodríguez B, Alba-Bernal A, López-López E, Quirós-Ortega ME, Carbajosa G, Garrido-Aranda A, Álvarez M, Godoy-Ortiz A, Queipo-Ortuño MI, Vicioso L, Díaz-Córdoba G, Roldán-Díaz MD, Velasco-Suelto J, Hernando C, Bermejo B, Julve-Parreño A, Lluch A, Pascual J, Comino-Méndez I, Alba E. Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis. International Journal of Molecular Sciences. 2023; 24(1):146. ces_ES
dc.identifier.urihttps://hdl.handle.net/10630/25968
dc.description.abstractBreast cancer (BC) is the most prevalent cancer in women. While usually detected when localized, invasive procedures are still required for diagnosis. Herein, we developed a novel ultrasensitive pipeline to detect circulating tumor DNA (ctDNA) in a series of 75 plasma samples from localized BC patients prior to any medical intervention. We first performed a tumor-informed analysis to correlate the mutations found in tumor tissue and plasma. Disregarding the tumor data next, we developed an approach to detect tumor mutations in plasma. We observed a mutation concordance between the tumor and plasma of 29.50% with a sensitivity down to 0.03% in mutant variant allele frequency (VAF). We detected mutations in 33.78% of the samples, identifying eight patients with plasma-only mutations. Altogether, we determined a specificity of 86.36% and a positive predictive value of 88.46% for BC detection. We demonstrated an association between higher ctDNA median VAF and higher tumor grade, multiple plasma mutations with a likelihood of relapse and more frequent TP53 plasma mutations in hormone receptor-negative tumors. Overall, we have developed a unique ultra-sensitive sequencing workflow with a technology not previously employed in early BC, paving the way for its application in BC screening.es_ES
dc.description.sponsorshipComino-Mendez’s contract is funded by the Spanish Association Against Cancer Scientific Foundation (AECC). This study was supported by the “Consejería de Salud y Familias—Junta de Andalucía” (PI-0291-2019), “Fundación Unicaja” is funding Alba-Bernal’s contract and the Andalusia-Roche Network in Precision Medical Oncology Quirós-Ortega’s contract. Carbajosa-Antona’s contract is funded by the “Ayudas María Zambrano para la atracción de talento internacional—Universidad de Málaga”. Partial funding for open access charge: Universidad de Málagaes_ES
dc.language.isoenges_ES
dc.publisherIOAP-MDPIes_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectCanceres_ES
dc.subject.otherCirculating tumor DNAes_ES
dc.subject.otherUltra-deep sequencinges_ES
dc.subject.otherEarly breast canceres_ES
dc.subject.otherLiquid biopsyes_ES
dc.titleDevelopment of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosises_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.centroFacultad de Medicinaes_ES
dc.identifier.doihttps://doi.org/10.3390/ijms24010146
dc.rights.ccAtribución 4.0 Internacional*
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersiones_ES


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