Targeted and exome sequencing identified somatic mutations in hepatocellular carcinoma

DOI Web Site Web Site PubMed 被引用文献3件
  • Yosuke Hirotsu
    Genome Analysis Center Yamanashi Prefectural Central Hospital Kofu Japan
  • Tang‐Hui Zheng
    Department of Gastroenterology Zhongshan Hospital Affiliated with Xiamen University Xiamen China
  • Kenji Amemiya
    Genome Analysis Center Yamanashi Prefectural Central Hospital Kofu Japan
  • Hitoshi Mochizuki
    Genome Analysis Center Yamanashi Prefectural Central Hospital Kofu Japan
  • Bayasi Guleng
    Department of Gastroenterology Zhongshan Hospital Affiliated with Xiamen University Xiamen China
  • Masao Omata
    Genome Analysis Center Yamanashi Prefectural Central Hospital Kofu Japan

書誌事項

公開日
2016-03-15
権利情報
  • http://onlinelibrary.wiley.com/termsAndConditions#vor
DOI
  • 10.1111/hepr.12663
公開者
Wiley

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説明

<jats:sec><jats:title>Aim</jats:title><jats:p>Genetic analysis has revealed a subset of recurrently mutated genes and aberrant cellular signaling pathways in hepatocellular carcinoma. To investigate genetic alterations and dysregulated pathways in hepatocellular carcinoma, we performed targeted sequencing and exome analysis using next‐generation sequencer.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We analyzed the somatic mutational profiles of 16 genes in primary hepatocellular carcinoma by targeted ultra‐deep sequencing using nine pairs of specimens (tumor and peripheral blood) and whole‐exome sequencing using one pair of samples.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Overall, somatic mutations with high allele fraction were identified in tumor tissues by targeted deep sequencing. Somatic mutations with high allele fraction were observed in <jats:italic>TP53</jats:italic> (3/9; 33%) and <jats:italic>CTNNB1</jats:italic> (2/9; 22%) genes in five out of nine (55%) specimens. <jats:italic>In vitro</jats:italic> analysis showed that <jats:italic>CTNNB1</jats:italic> H36P mutant protein identified in tumor samples was resistant to protein degradation and promoted cell proliferation. Exome sequencing identified <jats:italic>SLIT3</jats:italic> mutation, implying that dysregulation of axon guidance genes is involved in the development of hepatocellular carcinoma. These results showed that TP53 and WNT/β‐catenin signaling pathways were commonly mutated in hepatocellular carcinoma.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>These results suggest that targeted sequencing and exome sequencing enable the identification of putative oncogenic driver mutations during the development of hepatocarcinoma.</jats:p></jats:sec>

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