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Análisis de variantes genéticas en una familia con diagnóstico clínico de cáncer hereditario de síndrome de Li-Fraumeni like mediante panel de secuencia de nueva generación
dc.rights.license | Atribución-NoComercial-SinDerivadas 4.0 Internacional |
dc.contributor.advisor | Yunis Londoño, Juan Jose |
dc.contributor.author | Usme Romero, Solangy |
dc.date.accessioned | 2024-07-18T14:50:35Z |
dc.date.available | 2024-07-18T14:50:35Z |
dc.date.issued | 2024-07-11 |
dc.identifier.uri | https://repositorio.unal.edu.co/handle/unal/86556 |
dc.description | Ilustraciones a color, diagramas |
dc.description.abstract | Li-Fraumeni syndrome is one of the hereditary cancer syndromes that account for 5-10% of all cancers and is related to pathogenic variants inherited within family, increasing the risk of cancer significantly. It has an approximate prevalence of 1:3,555 to 1:5,476 people worldwide, with high interregional variability. In Colombia, this information is unknown. The disease occurs in two clinical forms: classic Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome (LFL), which have different clinical classification criteria. In LFL, the prevalence of germline variants in the TP53 gene is lower, and its occurrence is likely related to other altered genes. Detection rates for TP53 variants range from 55% to 70% when classical classification criteria are met, 25% to 30% for LFL criteria, and 20% to 35% for Chompret criteria. This means that up to 45% of patients meeting classical LFS criteria and up to 80% of patients meeting either Chompret or LFL criteria remain genetically unexplained. The aim of this study was to characterize germline genetic variants in a family with a clinical diagnosis of hereditary LFL cancer using a whole-exome-expanded next-generation sequencing (NGS) panel in the index case. No pathogenic, likely pathogenic or uncertain clinical significance (VUS) variants were identified in the TP53 gene or any of the candidate genes linked to the FL phenotype. Possible unevaluated mechanisms that could contribute to the phenotype include methylation of TP53 promoter regions, deep intronic variants or variants in TP53 regulatory regions, and alterations in the expression of TP53 isoforms. Therefore, additional studies should be performed to provide an explanation for the occurrence of this familial phenotype. |
dc.description.abstract | El síndrome de Li-Fraumeni es uno de los síndromes de cáncer hereditario que engloban el 5-10% de todos los cánceres y se relacionan con variantes patogénicas que son heredadas en línea familiar y aumentan significativamente el riesgo de cáncer, tiene una prevalencia aproximada de 1:3.555 a 1:5.476 personas en todo el mundo, con una alta variabilidad interregional, en Colombia se desconoce esta información. La enfermedad se presenta en dos formas clínicas a saber el síndrome de Li-Fraumeni clásico (LFS) y el síndrome de Li-Fraumeni like (LFL), cuyos criterios clínicos de clasificación difieren, ya que en este último la prevalencia de variantes germinales en el gen TP53 es menor y su aparición está probablemente relacionada a otros genes alterados. Las tasas de detección de variantes en TP53 varían de 55 al 70% cuando se cumplen los criterios de clasificación clásicos, 25% a 30% en los criterios de LFL y del 20% al 35% en los criterios de Chompret. Esto significa que hasta el 45% de los pacientes que cumplen los criterios clásicos de LFS y hasta el 80% de los pacientes que cumplen los criterios de Chompret o LFL quedan sin explicación genética. El objetivo de este estudio fue caracterizar variantes genéticas en línea germinal en una familia con diagnóstico clínico de cáncer hereditario LFL mediante panel de secuencia de nueva generación (NGS) y ampliado con exoma completo en el caso índice. No se identificaron variantes patogénicas probablemente patogénicas ni de significado clínico incierto (VUS) en el gen TP53 ni el ninguno de los genes candidatos que se han relacionado con el fenotipo de LF. Entre los posibles mecanismos no evaluados que podrían contribuir al fenotipo se encuentran: metilación de regiones promotoras de TP53, variantes profundas intrónicas o en regiones reguladoras de TP53 y alteraciones en la expresión de isoformas de TP53, por lo que habría que realizarse estudios adicionales que permitan dar una explicación a la aparición de este fenotipo familiar. (Texto tomado de la fuente) |
dc.description.sponsorship | Servicios Médicos Yunis Turbay aportó pruebas de diagnóstico molecular y equipos para análisis |
dc.format.extent | xii, 50 páginas |
dc.format.mimetype | application/pdf |
dc.language.iso | spa |
dc.publisher | Universidad Nacional de Colombia |
dc.subject.ddc | 610 - Medicina y salud::616 - Enfermedades |
dc.subject.other | Síndrome de Li-Fraumeni |
dc.subject.other | Li-Fraumeni Syndrome |
dc.subject.other | Proteína p53 Supresora de Tumor |
dc.title | Análisis de variantes genéticas en una familia con diagnóstico clínico de cáncer hereditario de síndrome de Li-Fraumeni like mediante panel de secuencia de nueva generación |
dc.type | Trabajo de grado - Maestría |
dc.type.driver | info:eu-repo/semantics/masterThesis |
dc.type.version | info:eu-repo/semantics/acceptedVersion |
dc.publisher.program | Bogotá - Medicina - Maestría en Genética Humana |
dc.contributor.datacollector | Maria Luz Lara Márquez |
dc.contributor.researchgroup | Patología Molecular |
dc.contributor.subjectmatterexpert | Luz Karime Yunis Hazbun |
dc.description.degreelevel | Maestría |
dc.description.degreename | Magister en Genética Humana |
dc.description.methods | Estudio analítico-descriptivo |
dc.identifier.instname | Universidad Nacional de Colombia |
dc.identifier.reponame | Repositorio Institucional Universidad Nacional de Colombia |
dc.identifier.repourl | https://repositorio.unal.edu.co/ |
dc.publisher.faculty | Facultad de Medicina |
dc.publisher.place | Bogotá, Colombia |
dc.publisher.branch | Universidad Nacional de Colombia - Sede Bogotá |
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dc.rights.accessrights | info:eu-repo/semantics/openAccess |
dc.subject.lemb | Cancer |
dc.subject.proposal | Li-Fraumeni like |
dc.subject.proposal | secuencia de nueva generación (NGS) |
dc.subject.proposal | cáncer hereditario |
dc.subject.proposal | next-generation sequencing (NGS) |
dc.subject.proposal | hereditary cancer |
dc.subject.proposal | Li-Fraumeni like |
dc.title.translated | "Analysis of Genetic Variants in a Family with a Clinical Diagnosis of Hereditary Li-Fraumeni Syndrome Using a Next-Generation Sequencing Panel" |
dc.type.coar | http://purl.org/coar/resource_type/c_bdcc |
dc.type.coarversion | http://purl.org/coar/version/c_ab4af688f83e57aa |
dc.type.content | Text |
dc.type.redcol | http://purl.org/redcol/resource_type/TM |
oaire.accessrights | http://purl.org/coar/access_right/c_abf2 |
dcterms.audience.professionaldevelopment | Bibliotecarios |
dcterms.audience.professionaldevelopment | Estudiantes |
dcterms.audience.professionaldevelopment | Investigadores |
dcterms.audience.professionaldevelopment | Público general |
dc.contributor.cvlac | Usme Romero, Solangy [0001371016] |
dc.contributor.researchgate | Solangy Usme-Romero |
dc.contributor.googlescholar | Usme Romero, Solangy [xcFiUpoAAAAJ] |