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Mutaciones reguladoras recurrentes y funcionales en el cáncer de mama
Esther Rheinbay1,2, Prasanna Parasuraman2, Jonna Grimsby1
1The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02124, USA.
Nature
|June 29, 2017
Resumen
Las mutaciones que causan cáncer ocurren con frecuencia en regiones promotoras, no solo en genes codificantes. Este estudio identificó mutaciones promotoras clave en el cáncer de mama, impactando la expresión génica y revelando nuevas vías para la investigación del cáncer.
Área de la Ciencia:
- La genómica
- Biología del cáncer
- Oncología molecular
Sus antecedentes:
- El análisis genómico se ha centrado principalmente en las regiones de codificación para la identificación del gen del cáncer.
- Las regiones no codificantes, en particular los promotores, se estudian poco por su papel en el desarrollo del cáncer.
Objetivo del estudio:
- Identificar regiones promotoras significativamente mutadas en el cáncer de mama mediante secuenciación profunda.
- Investigar las consecuencias funcionales de estas mutaciones de promotores en la expresión génica.
Principales métodos:
- Secuenciación profunda de 360 muestras de cáncer de mama primario.
- Desarrollo de métodos computacionales para detectar promotores con mutaciones significativas.
- Análisis del impacto de la mutación en la unión del factor de transcripción y la expresión génica.
Principales resultados:
- Se identificaron mutaciones recurrentes en los promotores de tres genes: FOXA1, RMRP y NEAT1.
- Las mutaciones del promotor FOXA1 conducen a una sobreexpresión a través de un aumento de la unión E2F en el cáncer de mama con receptores hormonales positivos.
- Las mutaciones en los promotores de RMRP y NEAT1 alteran los niveles de unión a las proteínas y la expresión génica.
Conclusiones:
- Las regiones promotoras albergan mutaciones recurrentes y funcionalmente significativas en el cáncer con frecuencias comparables a las regiones codificadoras.
- Estos hallazgos destacan la importancia de las regiones no codificantes en la genómica del cáncer.
- Se necesita una secuenciación más profunda de grandes cohortes de pacientes para descubrir mutaciones promotoras adicionales asociadas con el cáncer.
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