[HTML][HTML] Whole-genome sequencing reveals novel tandem-duplication hotspots and a prognostic mutational signature in gastric cancer

R Xing, Y Zhou, J Yu, Y Yu, Y Nie, W Luo… - Nature …, 2019 - nature.com
R Xing, Y Zhou, J Yu, Y Yu, Y Nie, W Luo, C Yang, T Xiong, WKK Wu, Z Li, Y Bing, S Lin…
Nature communications, 2019nature.com
Genome-wide analysis of genomic signatures might reveal novel mechanisms for gastric
cancer (GC) tumorigenesis. Here, we analysis structural variations (SVs) and mutational
signatures via whole-genome sequencing of 168 GCs. Our data demonstrates diverse
models of complex SVs operative in GC, which lead to high-level amplification of
oncogenes. We find varying proportion of tandem-duplications (TDs) among individuals and
identify 24 TD hotspots involving well-established cancer genes such as CCND1, ERBB2 …
Abstract
Genome-wide analysis of genomic signatures might reveal novel mechanisms for gastric cancer (GC) tumorigenesis. Here, we analysis structural variations (SVs) and mutational signatures via whole-genome sequencing of 168 GCs. Our data demonstrates diverse models of complex SVs operative in GC, which lead to high-level amplification of oncogenes. We find varying proportion of tandem-duplications (TDs) among individuals and identify 24 TD hotspots involving well-established cancer genes such as CCND1, ERBB2 and MYC. Specifically, we nominate a novel hotspot involving the super-enhancer of ZFP36L2 presents in approximately 10% GCs from different cohorts, the oncogenic role of which is further confirmed by experimental data. In addition, our data reveal a mutational signature, specifically occurring in noncoding region, significantly enriched in tumors with cadherin 1 mutations, and associated with poor prognoses. Collectively, our data suggest that TDs might serve as an important mechanism for cancer gene activation and provide a novel signature for stratification.
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