Ítem
Acceso Abierto
Genómica funcional para la descripción de mutaciones germinales en el diagnóstico molecular del cáncer de colon y recto no seleccionado en población colombiana
| dc.contributor.advisor | Fonseca Mendoza, Dora Janeth | |
| dc.contributor.advisor | Morel, Adrien | |
| dc.creator | Rodríguez Salamanca, Juliana Valentina | |
| dc.creator.degree | Magíster en Ciencias Naturales | |
| dc.creator.degreeLevel | Maestría | spa |
| dc.creator.degreetype | Full time | |
| dc.date.accessioned | 2024-02-14T11:49:18Z | |
| dc.date.available | 2024-02-14T11:49:18Z | |
| dc.date.created | 2023-12-01 | |
| dc.date.embargoEnd | info:eu-repo/date/embargoEnd/2026-02-15 | |
| dc.description | El cáncer colorrectal (CCR) es el tercer tipo de cáncer de mayor incidencia a nivel mundial, con altas tasas de mortalidad reportadas anualmente. A pesar de que la secuenciación de próxima generación (NGS) ha permitido caracterizar perfiles genómicos mutacionales en diversas poblaciones, la información específica sobre pacientes colombianos con CCR es limitada. El objetivo de esta investigación es identificar variantes germinales asociadas al CCR en dicha población, utilizando un panel de 206 genes que incluye tanto genes de paneles de diagnóstico clínico como genes candidatos obtenidos de estudios de literatura. La metodología empleada incluyó dos enfoques de clasificación: uno basado en las recomendaciones de la ACMG/AMP (American College of Medical Genetics and Genomics and the Association for Molecular Pathology) para identificar variantes patogénicas y probablemente patogénicas (P/PP), y otro utilizando el modelo de inteligencia artificial BoostDM. Los resultados obtenidos revelaron tasas significativas de variantes patogénicas, con un 12% de pacientes con variantes P/PP y un 65% con variantes “oncodriver” identificadas mediante BoostDM. Estos hallazgos sugieren la importancia de utilizar un panel ampliado en la detección de variantes germinales y la consideración de adoptar e indagar en nuevas estrategias de clasificación de variantes. Entre las variantes P/PP, se identificaron tres variantes intrónicas en sitios de splicing en genes candidatos. La validación funcional de estas variantes mediante un ensayo de minigenes demostró la generación de transcritos aberrantes, debido a la alteración en el splicing. En conclusión, esta investigación proporcionó información valiosa sobre la presencia y frecuencia de variantes patogénicas en pacientes colombianos con CCR, usando un análisis genómico ampliado mediante NGS, utilizando dos enfoques bioinformáticos. Adicionalmente, se logró probar funcionalmente el efecto de tres variantes intrónicas de interés, que demostró la consecuencia molecular de estas y la potencial implicación a nivel de la proteína. En conjunto, este estudio contribuye al conocimiento del perfil genómico de pacientes no seleccionados con CCR en la población colombiana, generando nuevas perspectivas para la aplicación clínica y traslacional que busca la identificación temprana y la aplicación de estrategias que mejoren el pronóstico y supervivencia de los portadores de variantes de interés. Para nuestro conocimiento, esta corresponde a la primera aproximación en el país que aborda esta estrategia en pacientes no seleccionados con CCR. | |
| dc.description.abstract | Colorectal cancer (CRC) is the third most common cancer worldwide, with high mortality rates reported annually. While next-generation sequencing (NGS) has facilitated the characterization of mutational genomic profiles in several populations, our understanding of Colombian patients with CRC is limited. The aim of this research is to identify germline variants associated with CRC in this population, using a panel of 206 genes that includes clinically diagnostic panel genes and candidate genes obtained from literature studies. The methodology included two classification approaches: one based on ACMG/AMP (American College of Medical Genetics and Genomics and the Association for Molecular Pathology) recommendations to identify pathogenic and likely pathogenic variants (P/LP), and the other one using an artificial intelligence model called BoostDM. The results revealed significant rates of pathogenic variants, with 12% of patients having P/PP variants and 65% with oncodriver variants identified through BoostDM. These findings suggest the importance of using an extended panel for germline variant detection and considering the adoption of new variant classification strategies. Within the P/LP variants, three intronic variants located at splicing sites in candidate genes were identified. Functional validation of these variants using a minigene assay demonstrated the generation of aberrant transcripts attributed to splicing alterations. In conclusion, this study provided valuable insights into the prevalence and frequency of pathogenic variants in Colombian patients with CRC through NGS, using two different classification approaches. Additionally, the functional effect of three intronic variants was successfully tested, supporting the hypothesis of protein-level damage induced by these variants. Overall, this study contributes to the genomic knowledge of unselected CRC patients in the Colombian population, producing new perspectives for the clinical and translational application aimed at early identification and the implementation of strategies to improve the prognosis and survival of carriers of pathogenic variants. To our knowledge, this study represents the first approach in the country to address this strategy in unselected CCR patients. | |
| dc.description.sponsorship | Hospital Universitario Mayor Méderi | |
| dc.description.sponsorship | Universidad del Rosario | |
| dc.format.extent | 47 pp | |
| dc.format.mimetype | application/pdf | |
| dc.identifier.doi | https://doi.org/10.48713/10336_42238 | |
| dc.identifier.uri | https://repository.urosario.edu.co/handle/10336/42238 | |
| dc.language.iso | spa | |
| dc.publisher | Universidad del Rosario | |
| dc.publisher.department | Facultad de Ciencias Naturales | |
| dc.publisher.program | Maestría en Ciencias Naturales | |
| dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | * |
| dc.rights.accesRights | info:eu-repo/semantics/embargoedAccess | |
| dc.rights.acceso | Restringido (Temporalmente bloqueado) | |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
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| dc.source.instname | instname:Universidad del Rosario | |
| dc.source.reponame | reponame:Repositorio Institucional EdocUR | |
| dc.subject | Cáncer colorrectal | |
| dc.subject | Secuenciación de próxima generación (NGS) | |
| dc.subject | Variantes germinales patogénicas | |
| dc.subject | Inteligencia artificial | |
| dc.subject | Minigenes | |
| dc.subject | Validación funcional | |
| dc.subject.keyword | Pathogenic germline variants | |
| dc.subject.keyword | Next Generation sequencing (NGS) | |
| dc.subject.keyword | Artificial intelligence | |
| dc.subject.keyword | Minigenes | |
| dc.subject.keyword | Functional validation | |
| dc.subject.keyword | Colorectal cancer | |
| dc.title | Genómica funcional para la descripción de mutaciones germinales en el diagnóstico molecular del cáncer de colon y recto no seleccionado en población colombiana | |
| dc.title.TranslatedTitle | Functional genomics for the description of germline mutations in the molecular diagnosis of unselected colorectal cancer in the Colombian population | |
| dc.type | bachelorThesis | |
| dc.type.document | Trabajo de grado | |
| dc.type.hasVersion | info:eu-repo/semantics/acceptedVersion | |
| dc.type.spa | Pre-print | |
| local.department.report | Escuela de Ciencias e Ingeniería |
