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Descubrimiento y análisis de saturación de genes de cáncer en 21 tipos de tumores
Michael S Lawrence1, Petar Stojanov2, Craig H Mermel3
1Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.
Nature
|January 7, 2014
Resumen
El análisis genómico a gran escala de cánceres humanos identificó genes de cáncer conocidos y 33 nuevos genes significativamente mutados. Otros estudios con más muestras revelarán genes adicionales del cáncer, guiando la futura investigación genómica del cáncer.
Área de la Ciencia:
- La genómica es la genómica.
- Biología del cáncer Biología del cáncer.
- La bioinformática es la bioinformática.
Sus antecedentes:
- La mayoría de los genes del cáncer están mutados a frecuencias intermedias (2-20%) en los tumores.
- La identificación de todos los genes que impulsan el cáncer es crucial para una genómica integral del cáncer.
Objetivo del estudio:
- Evaluar la viabilidad de crear un catálogo completo de genes del cáncer.
- Identificar nuevos genes del cáncer a través de análisis genómicos a gran escala.
Principales métodos:
- Análisis de mutaciones somáticas puntuales en secuencias de exomas.
- Estudió 4.742 cánceres humanos en 21 tipos de cáncer con muestras de tejido normal emparejadas.
- Utilizó análisis de muestreo descendente para predecir el futuro descubrimiento de genes.
Principales resultados:
- El análisis genómico a gran escala identificó con éxito genes de cáncer conocidos.
- Descubrió 33 genes significativamente mutados previamente desconocidos en el cáncer.
- Identificó genes involucrados en la proliferación, la apoptosis, la estabilidad del genoma y más.
Conclusiones:
- La catalogación completa de los genes del cáncer es factible a través del análisis genómico a gran escala.
- Un mayor aumento en el tamaño de las muestras revelará más genes de cáncer clínicamente relevantes.
- Los resultados proporcionan una base para la próxima fase de la investigación genómica del cáncer.
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