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Las inserciones y supresiones apuntan a los genes que definen el linaje en los cánceres humanos
Marcin Imielinski1, Guangwu Guo2, Matthew Meyerson3
1Department of Pathology and Laboratory Medicine, Englander Institute for Precision Medicine, Institute for Computational Biomedicine, and Meyer Cancer Center, Weill Cornell Medicine, New York, NY 10065, USA; New York Genome Center, New York, NY 10013, USA.
Cell
|January 17, 2017
Resumen
Las células cancerosas exhiben patrones de mutación únicos en genes cruciales para sus funciones específicas. Los investigadores identificaron nuevos puntos de acceso indel en genes de linaje de células secretoras en varios tipos de cáncer, revelando un vínculo entre el tipo de célula y el desarrollo del cáncer.
Área de la Ciencia:
- La genómica
- Biología del cáncer
- Oncología molecular
Sus antecedentes:
- Los tipos específicos de células secretan proteínas vitales para la función del órgano, como las proteínas tensioactivas en los pulmones, la albúmina en el hígado y la lipasa en el estómago.
- Estudios genómicos previos de adenocarcinomas pulmonares identificaron puntos calientes de mutación somática no codificantes y puntos calientes de indel en genes de proteínas tensioactivas.
Objetivo del estudio:
- Investigar la presencia y las características de puntos calientes indel en regiones no codificantes de genes altamente expresados en diversos cánceres sólidos.
- Identificar procesos mutacionales potenciales que vinculan el linaje celular y el desarrollo del cáncer.
Principales métodos:
- Análisis de secuenciación de todo el genoma de adenocarcinomas pulmonares.
- Extrapolación de los hallazgos a otros cánceres sólidos, incluidos los de hígado, estómago y tiroides.
- Análisis de contextos de secuencias y estados de cromatina asociados con puntos calientes de indel.
Principales resultados:
- Se encontraron puntos calientes recurrentes de indel específicos del tipo de tumor en regiones no codificantes de genes secretores que definen el linaje (por ejemplo, ALB, LIPF, TG).
- Estos puntos de acceso indel fueron significativamente enriquecidos en el motivo de ADN AATAATD.
- Los contextos específicos de cromatina, incluidos H3K27ac y H3K36me3, se asociaron con estos puntos calientes de mutación.
Conclusiones:
- Un proceso mutacional no reconocido previamente se dirige a regiones no codificantes de genes altamente expresados que definen el linaje en el cáncer.
- Este proceso vincula el linaje secretor celular con paisajes mutacionales específicos del cáncer.
- Los hallazgos proporcionan información sobre los mecanismos de desarrollo del cáncer impulsados por la identidad celular.
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