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2014
DOI: 10.1038/ng.2935
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Genomic and molecular characterization of esophageal squamous cell carcinoma

Abstract: Esophageal squamous cell carcinoma (ESCC) is a world-wide prevalent cancer, which is 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 novel significantly mutated genes such as FAT1, FAT2, ZNF750 and KMT2D, in addition to previously discovered ones (TP53, PIK3CA and NOTCH1). Further SCNV evaluation, immunohistochemistry and biological analysis… Show more

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Cited by 677 publications

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“…This suggests similar molecular cancer mechanisms at the RNA level between the two groups, rather than a distinguishable and specific signature for hESCC. Activation of Wnt signaling and Notch pathways, earlier shown to be involved in development of ESCC, are not clearly different between hESCC and sESCC in our data [6,7,[9][10][11][12]. These data differ from previous results, which concluded that the RNA expression profiles of second primary radiation-…”
Section: Discussion
contrasting
confidence: 99%