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Las firmas de los procesos mutacionales en el cáncer humano
Ludmil B Alexandrov1, Serena Nik-Zainal, David C Wedge
1Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.
Nature
|August 16, 2013
Resumen
El desarrollo del cáncer es impulsado por mutaciones somáticas. Este estudio identificó más de 20 firmas mutacionales distintas en 7.042 tipos de cáncer, revelando diversos procesos biológicos y posibles objetivos terapéuticos.
Área de la Ciencia:
- La genómica es la genómica.
- Biología del cáncer Biología del cáncer.
- Oncología Molecular Oncología Molecular
Sus antecedentes:
- Las mutaciones somáticas son la causa fundamental de todos los cánceres.
- Comprender los procesos biológicos que generan estas mutaciones es crucial pero limitado.
- Los genomas del cáncer contienen firmas que reflejan los procesos mutacionales involucrados.
Objetivo del estudio:
- Para analizar un gran conjunto de datos de mutaciones del cáncer para identificar y caracterizar las firmas mutacionales.
- Explorar los orígenes y las asociaciones de estas firmas con factores clínicos y etiológicos.
- Para investigar los eventos de hipermutación localizada ("kataegis") en los genomas del cáncer.
Principales métodos:
- Análisis de 4.938.362 mutaciones de 7.042 muestras de cáncer.
- Extracción y clasificación de distintas firmas mutacionales.
- Correlación de las firmas con la edad del paciente, exposiciones mutagénicas y defectos de reparación del ADN.
Principales resultados:
- Identificación de más de 20 firmas mutacionales distintas.
- Descubrimiento de firmas asociadas con las enzimas APOBEC, la edad del paciente y el mantenimiento del ADN.
- Observación de firmas crípticas y hipermutación localizada (kataegis) en varios tipos de cáncer.
- Demostración de diversos procesos mutacionales subyacentes al desarrollo del cáncer.
Conclusiones:
- El estudio revela un amplio espectro de procesos mutacionales que contribuyen al cáncer.
- Las firmas mutacionales ofrecen información sobre la etiología del cáncer, la prevención y las estrategias de tratamiento.
- Investigaciones adicionales sobre firmas crípticas y kataegis podrían descubrir nuevas vías terapéuticas.
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