Descripción del panorama mutacional de 50 genes en algunos tipos de cáncer presentes en población antioqueña a través de Secuenciación de Próxima Generación

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dc.contributor.advisorHernández Ortiz, Juan Pablo
dc.contributor.authorMoreno López, Isabel
dc.contributor.cvlacIsabel Moreno López
dc.contributor.orcidMoreno López, Isabel [0000-0003-2258-4724]
dc.contributor.orcidHernández Ortiz. Juan Pablo [0000-0003-0404-9947]
dc.contributor.researchgatehttps://www.researchgate.net/profile/Isabel-Moreno-Lopez-2?ev=hdr_xprf
dc.contributor.researchgroupCrs-Tid Center for Research and Surveillance of Tropical and Infectious Diseases
dc.coverage.regionAntioquia (Colombia)
dc.date.accessioned2025-08-26T21:58:21Z
dc.date.available2025-08-26T21:58:21Z
dc.date.issued2025
dc.descriptionIlustracionesspa
dc.description.abstractEl análisis mutacional de tumores se ha convertido en una herramienta fundamental para el diagnóstico, tratamiento y seguimiento del cáncer. Las tecnologías de Secuenciación de Próxima Generación (NGS) han permitido obtener información detallada sobre las mutaciones y variantes presentes en los tumores, impulsando el desarrollo de la medicina de precisión. Sin embargo, en países con limitaciones de recursos, como Colombia, la adopción de estas tecnologías ha sido limitada, lo que ha generado una falta de información sobre la variabilidad genética del cáncer en su población. Este estudio tiene como objetivo describir el panorama mutacional de once muestras de tumor de pacientes con diferentes tipos de cáncer (gástrico, recto, pleura, colon y periampular) en el departamento de Antioquia, Colombia. Para desarrollar esta investigación se utilizó un panel comercial de secuenciación dirigida que está diseñado para identificar variantes en puntos de alta mutación de 50 genes asociados al cáncer, los cuales presentan relevancia clínica. Los datos obtenidos se analizaron con el fin de describir el perfil mutacional de cada tumor. De esta forma, se identificaron y detallaron variantes genéticas de interés en las muestras tumorales analizadas. La información obtenida permitió describir el perfil mutacional de cada tumor, proporcionando información de alta relevancia sobre la variabilidad genética del cáncer en once pacientes del departamento de Antioquia. Dichos resultados contribuyeron al desarrollo de estrategias de diagnóstico, tratamiento y seguimiento más precisas para el cáncer en la región, lo cual se distingue como un aporte al desarrollo de la medicina personalizada en Colombia. (Tomado de la fuente)spa
dc.description.abstractMutational analysis of tumors has become a fundamental tool for the diagnosis, treatment, and monitoring of cancer. Next-Generation Sequencing (NGS) technologies have enabled the detailed acquisition of information about the mutations and variants present in tumors, driving the development of precision medicine. However, in resource-limited countries such as Colombia, the adoption of these technologies has been limited, resulting in a lack of information on the genetic variability of cancer in their population. This study aims to describe the mutational landscape of eleven tumor samples from patients with different types of cancer (gastric, rectal, pleural, colon, and periampullary) in the department of Antioquia, Colombia. A commercial targeted sequencing panel designed to identify variants in highly mutated regions of 50 clinically relevant cancer-associated genes was used for this research. The data obtained were analyzed to describe the mutational profile of each tumor. Thus, genetic variants of interest were identified and detailed in the analyzed tumor samples. The obtained information allowed for the description of the mutational profile of each tumor, providing highly relevant data on the genetic variability of cancer in eleven patients from the department of Antioquia. These results contributed to the development of more precise strategies for the diagnosis, treatment, and monitoring of cancer in the region, which is distinguished as a contribution to the development of personalized medicine in Colombia.eng
dc.description.curricularareaBiotecnología.Sede Medellín
dc.description.degreelevelMaestría
dc.description.degreenameMagíster en Ciencias - Biotecnología
dc.format.extent173 páginas
dc.format.mimetypeapplication/pdf
dc.identifier.instnameUniversidad Nacional de Colombiaspa
dc.identifier.reponameRepositorio Institucional Universidad Nacional de Colombiaspa
dc.identifier.repourlhttps://repositorio.unal.edu.co/spa
dc.identifier.urihttps://repositorio.unal.edu.co/handle/unal/88479
dc.language.isospa
dc.publisherUniversidad Nacional de Colombia
dc.publisher.branchUniversidad Nacional de Colombia - Sede Medellín
dc.publisher.facultyFacultad de Ciencias
dc.publisher.placeMedellín, Colombia
dc.publisher.programMedellín - Ciencias - Maestría en Ciencias - Biotecnología
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dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.licenseAtribución-NoComercial-SinDerivadas 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.ddc570 - Biología::576 - Genética y evolución
dc.subject.ddc660 - Ingeniería química
dc.subject.lembCáncer - Aspectos genéticos - Antioquia (Colombia)
dc.subject.lembCáncer - Tratamiento genético - Antioquia (Colombia)
dc.subject.lembCáncer - Tratamiento - Antioquia (Colombia)
dc.subject.lembCáncer - Innovaciones tecnológicas - Antioquia (Colombia)
dc.subject.lembBiotecnología
dc.subject.proposalSecuenciaciónspa
dc.subject.proposalSequencingeng
dc.subject.proposalCáncerspa
dc.subject.proposalCancereng
dc.subject.proposalGenesspa
dc.subject.proposalGeneseng
dc.subject.proposalPanelspa
dc.subject.proposalPaneleng
dc.subject.proposalDescripciónspa
dc.subject.proposalDescription
dc.subject.proposalMutacionesspa
dc.subject.proposalMutationseng
dc.titleDescripción del panorama mutacional de 50 genes en algunos tipos de cáncer presentes en población antioqueña a través de Secuenciación de Próxima Generaciónspa
dc.title.translatedMutational landscape analysis of 50 genes in selected cancer types using NextGeneration Sequencing in patients from Antioquia, Colombiaeng
dc.typeTrabajo de grado - Maestría
dc.type.coarhttp://purl.org/coar/resource_type/c_bdcc
dc.type.coarversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.contentText
dc.type.driverinfo:eu-repo/semantics/masterThesis
dc.type.redcolhttp://purl.org/redcol/resource_type/TM
dc.type.versioninfo:eu-repo/semantics/acceptedVersion
dcterms.audience.professionaldevelopmentEstudiantes
dcterms.audience.professionaldevelopmentInvestigadores
dcterms.audience.professionaldevelopmentMaestros
oaire.accessrightshttp://purl.org/coar/access_right/c_abf2

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