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논문 기본 정보

자료유형
학술저널
저자정보
Chae Hyojin (Department of Laboratory Medicine College of Medicine The Catholic University of Korea Seoul KoreaC) Sung Pil Soo (Department of Internal Medicine Seoul St. Mary’s Hospital The Catholic University Liver Research Ce) Choi Hayoung (Catholic Genetic Laboratory Center Seoul St. Mary’s Hospital College of Medicine The Catholic Unive) Kwon Ahlm (Catholic Genetic Laboratory Center Seoul St. Mary’s Hospital College of Medicine The Catholic Unive) Kang Dain (Catholic Genetic Laboratory Center Seoul St. Mary’s Hospital College of Medicine The Catholic Unive) Kim Yonggoo (Department of Laboratory Medicine College of Medicine The Catholic University of Korea Seoul KoreaC) Kim Myungshin (Department of Laboratory Medicine College of Medicine The Catholic University of Korea Seoul KoreaC) Yoon Seung Kew (Department of Internal Medicine Seoul St. Mary’s Hospital The Catholic University Liver Research Ce)
저널정보
대한진단검사의학회 Annals of Laboratory Medicine Annals of Laboratory Medicine 제41권 제2호
발행연도
2021.1
수록면
198 - 206 (9page)

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Background: Hepatocellular carcinoma (HCC) is the second-most-common cause of cancer-related deaths worldwide, and an accurate and non-invasive biomarker for the early detection and monitoring of HCC is required. We assessed pathogenic variants of HCC driver genes in cell-free DNA (cfDNA) from HCC patients who had not undergone systemic therapy. Methods: Plasma cfDNA was collected from 20 HCC patients, and deep sequencing was performed using a customized cfDNA next-generation sequencing panel, targeting the major HCC driver genes (TP53, CTNNB1, TERT) that incorporates molecular barcoding. Results: In 13/20 (65%) patients, we identified at least one pathogenic variant of two major HCC driver genes (TP53 and CTNNB1), including 16 variants of TP53 and nine variants of CTNNB1. The TP53 and CTNNB1 variants showed low allele frequencies, with median values of 0.17% (range: 0.06%-6.99%) and 0.07% (range: 0.05%?0.96%), respectively. However, the molecular coverage of variants was sufficient, with median values of 5,543 (range: 2,317?9,088) and 7,568 (range: 2,400?9,633) for TP53 and CTNNB1 variants, respectively. Conclusions: Our targeted DNA sequencing successfully identified low-frequency pathogenic variants in the cfDNA from HCC patients by achieving high coverage of unique molecular families. Our results support the utility of cfDNA analysis to identify somatic gene variants in HCC patients.

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