Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.
作者： Jiang Chang , Wenle Tan , Zhiqiang Ling , Ruibin Xi , Mingming Shao
DOI: 10.1038/NCOMMS15290
关键词:
摘要: Approximately half of the world's 500,000 new oesophageal squamous-cell carcinoma (ESCC) cases each year occur in China. Here, we show whole-genome sequencing DNA and RNA 94 Chinese individuals with ESCC. We identify six mutational signatures (E1-E6), Signature E4 is unique ESCC linked to alcohol intake genetic variants alcohol-metabolizing enzymes. discover significantly recurrent mutations 20 protein-coding genes, 4 long non-coding RNAs 10 untranslational regions. Functional analyses genes that have copy-number three carcinomas (oesophageal, head neck lung) promote cancer cell proliferation, migration invasion. The most frequently affected by structural variation are LRP1B TTC28. aberrant cycle PI3K-AKT pathways seem critical These results establish a comprehensive genomic landscape provide potential targets for precision treatment prevention cancer.
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