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Las firmas mutacionales asociadas con el tabaquismo en el cáncer humano

Ludmil B Alexandrov^1,2,3, Young Seok Ju⁴, Kerstin Haase⁵

¹Theoretical Biology and Biophysics (T-6), Los Alamos National Laboratory, Los Alamos, NM 87545, USA. lba@lanl.gov mrs@sanger.ac.uk.

Science (New York, N.Y.)

|November 5, 2016

Resumen

El tabaquismo eleva el riesgo de cáncer al aumentar la carga de mutación somática. El análisis de 5243 cánceres revela distintas firmas mutacionales relacionadas con el tabaquismo, incluidos los daños en el ADN y los procesos de edición.

Área de la Ciencia:

En el campo de la oncología
La genética
Biología molecular

Sus antecedentes:

El tabaquismo es un factor de riesgo importante para numerosos cánceres humanos.
Comprender los mecanismos moleculares que vinculan el tabaquismo con el cáncer es crucial para la prevención y el tratamiento.

Objetivo del estudio:

Investigar la asociación entre el tabaquismo y las mutaciones somáticas y la metilación del ADN en los cánceres relacionados con el tabaquismo.
Identificar y caracterizar las firmas mutacionales atribuibles al tabaquismo.

Principales métodos:

Análisis de mutaciones somáticas y datos de metilación del ADN de 5243 muestras de cáncer.
Identificación y comparación de firmas mutacionales distintas en diferentes tipos de cáncer.
Correlación de los patrones mutacionales con los efectos directos o indirectos de los carcinógenos del tabaco.

Principales resultados:

El tabaquismo está relacionado con el aumento de las cargas de mutación en múltiples firmas mutacionales distintas.
Una firma, que prevalece en los tejidos directamente expuestos, es el resultado del daño al ADN causado por los carcinógenos del tabaco.
Otras firmas incluyen edición de ADN mediada por APOBEC y un proceso endógeno similar a un reloj.
Se observaron diferencias limitadas en la metilación del ADN en relación con el tabaquismo.

Conclusiones:

Los hallazgos apoyan la hipótesis de que fumar aumenta el riesgo de cáncer al elevar la carga de mutación somática.
Las firmas mutacionales específicas proporcionan información sobre las vías moleculares a través de las cuales el tabaquismo impulsa la tumorigénesis.
Todavía se necesitan pruebas directas del mecanismo de carga de mutación para ciertos cánceres relacionados con el tabaquismo.

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