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Distintas clases de variación estructural compleja descubiertas en miles de gráficos del genoma del cáncer
Kevin Hadi1, Xiaotong Yao2, Julie M Behr2
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY 10021, USA; New York Genome Center, New York, NY 10013, USA.
Cell
|October 2, 2020
Resumen
Los investigadores descubrieron tres nuevos tipos de reordenamientos complejos del ADN en los genomas del cáncer: pirgo, rigma y tifonas. Estos hallazgos, basados en el análisis del gráfico del genoma, revelan nuevos conocimientos sobre el desarrollo del cáncer y posibles objetivos terapéuticos.
Área de la Ciencia:
- La genómica
- Biología del cáncer
- La bioinformática
Sus antecedentes:
- Los reordenamientos del ADN somático son comunes en los genomas del cáncer.
- Muchos reordenamientos son difíciles de clasificar en categorías de variantes estructurales simples o complejas.
Objetivo del estudio:
- Aplicar un nuevo paradigma computacional del gráfico del genoma para analizar el número de copias de unión (JCN) en secuencias de genoma completo del tumor.
- Para descubrir y caracterizar nuevos fenómenos complejos de reordenamiento del ADN.
Principales métodos:
- Análisis de la topología de número de copia de unión (JCN) utilizando un paradigma computacional de gráfico de genoma.
- Secuenciación de todo el genoma de 2.778 muestras de tumores.
- Agrupación de tumores basados en características derivadas del gráfico del genoma.
Principales resultados:
- Identificación de tres nuevos fenómenos de reordenamiento complejo: pyrgo, rigma y tyfonas.
- Pyrgo (duplicaciones) relacionadas con la replicación temprana, los superpotenciadores y los cánceres de mama / ovario.
- Rigma (deleciones) relacionadas con la replicación tardía, los sitios frágiles y los cánceres gastrointestinales.
- Tifonas (inversiones) relacionadas con las fusiones codificadoras de proteínas, la hipermutación y los melanomas acrales.
- Se identificaron subgrupos tumorales asociados con defectos de reparación del ADN y mal pronóstico.
Conclusiones:
- El enfoque del gráfico del genoma revela nuevos reordenamientos genómicos complejos en el cáncer.
- Estos fenómenos (pyrgo, rigma, tyfonas) tienen contextos genómicos distintos y asociaciones con el cáncer.
- Las características genómicas identificaron subgrupos relacionados con la reparación y el pronóstico del ADN, lo que sugiere implicaciones terapéuticas.
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