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Identificar la epistasis en los genomas del cáncer: un asunto delicado
Joris van de Haar1, Sander Canisius2, Michael K Yu3
1Division of Molecular Oncology & Immunology, the Netherlands Cancer Institute, Amsterdam, 1066 CX, the Netherlands; Division of Molecular Carcinogenesis, the Netherlands Cancer Institute, Amsterdam, 1066 CX, the Netherlands; Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Cell
|June 1, 2019
Resumen
La mayoría de las mutaciones genéticas del cáncer parecen excluirse mutuamente debido al subtipo de tumor y la carga de mutación, no a la estructura de la vía. Los investigadores deben reconsiderar los mapas actuales de epistasis hasta que se comprendan mejor estas interacciones complejas.
Área de la Ciencia:
- En el campo de la oncología
- La genómica
- La bioinformática
Sus antecedentes:
- La investigación del cáncer a menudo identifica vías genéticas basadas en mutaciones mutuamente exclusivas.
- La epistasis, donde un gen afecta la mutación de otro, es un concepto clave en la identificación de vías.
Objetivo del estudio:
- Investigar las razones subyacentes de la exclusividad mutua entre las mutaciones genéticas del cáncer.
- Determinar si la estructura de la vía u otros factores impulsan los patrones de mutación observados.
Principales métodos:
- Análisis de los datos del genoma del tumor.
- Examen estadístico de los patrones de mutación en diferentes subtipos de cáncer.
- Correlación de la exclusividad de la mutación con la carga de mutación tumoral y otras características.
Principales resultados:
- La exclusividad mutua observada de las mutaciones está impulsada en gran medida por el subtipo de tumor y la carga de mutación general, no por la estructura de la vía inherente.
- Los genes impulsores del cáncer con frecuencia mutan en tumores con bajos recuentos de mutaciones, que aparecen exclusivamente de otras mutaciones.
- Los mapas de epistasis actuales pueden malinterpretar estas interacciones.
Conclusiones:
- La exclusividad mutua en los genomas del cáncer está influenciada por múltiples factores más allá de las vías genéticas.
- El subtipo de tumor y la carga de mutación tienen un impacto significativo en los patrones de mutación.
- Se necesita más investigación para comprender la compleja interacción de los factores que afectan la evolución del genoma del cáncer.
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