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Caracterización exhaustiva de los genes y mutaciones causantes del cáncer
Matthew H Bailey1, Collin Tokheim2, Eduard Porta-Pardo3
1Division of Oncology, Department of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA; McDonnell Genome Institute, Washington University, St. Louis, MO 63108, USA.
Cell
|April 7, 2018
Resumen
Este estudio cataloga exhaustivamente los genes y mutaciones impulsores del cáncer en 9.423 tumores utilizando 26 herramientas. Los hallazgos revelan 299 genes conductores y más de 3.400 mutaciones, avanzando en la oncología de precisión.
Área de la Ciencia:
- La genómica
- Biología computacional
- En el campo de la oncología
Sus antecedentes:
- La identificación de los impulsores moleculares del cáncer es crucial para el avance de la oncología de precisión.
- Los algoritmos existentes para la identificación del conductor son numerosos, pero rara vez se combinan u optimizan en grandes conjuntos de datos.
Objetivo del estudio:
- Para llevar a cabo un análisis integral de PanCancer y PanSoftware para catalogar los genes y mutaciones causantes del cáncer.
- Combinar y optimizar sistemáticamente múltiples herramientas computacionales para la identificación del conductor.
Principales métodos:
- Análisis de 9.423 exomas tumorales de los 33 proyectos del Atlas del Genoma del Cáncer (TCGA).
- Utilizó 26 herramientas computacionales distintas para el catálogo de genes y mutaciones.
- Se emplean análisis basados en secuencias y estructuras para la caracterización de mutaciones y la validación experimental.
Principales resultados:
- Se identificaron 299 genes impulsores con implicaciones para los sitios anatómicos y los tipos de cáncer / células.
- Descubrió más de 3.400 mutaciones de conductores supuestas apoyadas por múltiples líneas de evidencia.
- La validación experimental confirmó entre el 60% y el 85% de las mutaciones previstas como factores probables.
- Se encontraron asociaciones entre los tumores de inestabilidad microsatélite (MSI) y la alta expresión de PD-1/PD-L1.
- Determinó que el 57% de los tumores analizados albergan eventos potencialmente accionables clínicamente.
Conclusiones:
- Este estudio representa el descubrimiento más extenso de genes y mutaciones de cáncer hasta la fecha.
- Los hallazgos proporcionan un recurso fundamental y un plan para futuras investigaciones sobre el cáncer y aplicaciones clínicas.
- El catálogo completo de factores y mutaciones accionables acelerará los esfuerzos de oncología de precisión.
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