The Potential and Analysis of ctDNA Sequencing in Hepatocellular Carcinoma

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Abstract
Background: The Genome map of hepatocellular carcinoma (HCC) is complex. We used the next generation of targeted sequencing technology to decipher the mutations in patients with liver cancerMethods: The circulating tumor cell DNA (ctDNA) of 10 patients with hepatocellular carcinoma (Including 8 cases of primary hepatocellular carcinoma and 2 cases of metastatic hepatocellular carcinoma) were sequenced. We used SAMtools to detect and screen single nucleotide polymorphism (SNP) and insertion deletion (INDEL) mutations, and ANNOVAR to annotate the structure and function of the detected mutations.Results: Targeted capture and deep sequencing of 560 cancer-related genes in 10 liver cancer ctDNA samples showed 8950 single nucleotide variations (SNVS) mutations and 70 INDELS. The most common mutation gene was PDE4DIP, followed by SYNE1, KMT2C, PKHD1 and FN1. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, we authenticated 54 pathogenic and possible pathogenic mutations in 39 genes in exons and splice regions of 10 patients with HCC.Conclusion: Our research provides the gene mutation map of Chinese hepatocarcinoma patients, and enriches the understanding of the pathogenesis of HCC.
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