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Patrones de variación estructural somática en los genomas del cáncer humano

Yilong Li^1,2, Nicola D Roberts¹, Jeremiah A Wala^3,4,5

¹Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, UK.

|February 7, 2020

Resumen

El cáncer implica variaciones estructurales, que son reordenamientos genómicos. Los investigadores identificaron 16 firmas de variación estructural distintas en miles de cánceres, revelando complejas alteraciones genómicas que impulsan el desarrollo del cáncer.

Área de la Ciencia:

La genómica
Biología del cáncer
La bioinformática

Sus antecedentes:

La variación estructural es un factor importante en el desarrollo del cáncer.
Comprender estos reordenamientos genómicos es crucial para la investigación del cáncer.

Objetivo del estudio:

Desarrollar métodos para agrupar, clasificar y describir las variantes estructurales somáticas.
Para analizar las firmas de variación estructural en una gran cohorte de cáncer.

Principales métodos:

Se utilizaron datos de secuenciación de todo el genoma del Consorcio de Análisis Pancancerígeno de Genomas Totales (PCAWG).
Aplicó nuevos métodos computacionales para identificar y caracterizar las variantes estructurales.
Analizaron datos de 2658 cánceres en 38 tipos de tumores.

Principales resultados:

Se identificaron 16 firmas distintas de variación estructural.
Caracterizó las deleciones, las duplicaciones en tándem y las translocaciones desequilibradas, observando sus distintas distribuciones genómicas y el tiempo de replicación.
Se descubrieron ciclos de inserción templados correlacionados con duplicaciones en tándem y activación de TERT en el cáncer de hígado.

Conclusiones:

Múltiples mecanismos de reordenamiento contribuyen a la complejidad del genoma del cáncer.
Las variaciones estructurales crean diversas configuraciones genómicas que están sujetas a presiones selectivas en el cáncer.

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