Genomic and molecular characterization of esophageal squamous cell carcinoma

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書誌事項

公開日
2014-03-30
権利情報
  • https://www.springer.com/tdm
  • https://www.springer.com/tdm
DOI
  • 10.1038/ng.2935
公開者
Springer Science and Business Media LLC

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説明

Esophageal squamous cell carcinoma (ESCC) is prevalent worldwide and particularly common in certain regions of Asia. Here we report the whole-exome or targeted deep sequencing of 139 paired ESCC cases, and analysis of somatic copy number variations (SCNV) of over 180 ESCCs. We identified previously uncharacterized mutated genes such as FAT1, FAT2, ZNF750 and KMT2D, in addition to those already known (TP53, PIK3CA and NOTCH1). Further SCNV evaluation, immunohistochemistry and biological analysis suggested their functional relevance in ESCC. Notably, RTK-MAPK-PI3K pathways, cell cycle and epigenetic regulation are frequently dysregulated by multiple molecular mechanisms in this cancer. Our approaches also uncovered many druggable candidates, and XPO1 was further explored as a therapeutic target because it showed both gene mutation and protein overexpression. Our integrated study unmasks a number of novel genetic lesions in ESCC and provides an important molecular foundation for understanding esophageal tumors and developing therapeutic targets.

収録刊行物

  • Nature Genetics

    Nature Genetics 46 (5), 467-473, 2014-03-30

    Springer Science and Business Media LLC

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