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Ultra-deep sequencing of plasma DNA identifies druggable mutations in hepatocellular carcinoma

ABSTRACT: The purpose of the study is to detect somatic mutations in hepatocellular carcinoma using circulating free-DNA. We used deep-sequencing data of a panel of 60 commonly mutated genes in hepatocellular carcinoma.

INSTRUMENT(S): Illumina MiSeq

ORGANISM(S): Homo sapiens

SUBMITTER: Augusto Villanueva

PROVIDER: E-MTAB-5123 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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A pilot study of ultra-deep targeted sequencing of plasma DNA identifies driver mutations in hepatocellular carcinoma.

Labgaa Ismail I Villacorta-Martin Carlos C D'Avola Delia D Craig Amanda J AJ von Felden Johann J Martins-Filho Sebastiao N SN Sia Daniela D Stueck Ashley A Ward Stephen C SC Fiel M Isabel MI Mahajan Milind M Tabrizian Parissa P Thung Swan N SN Ang Celina C Friedman Scott L SL Llovet Josep M JM Schwartz Myron M Villanueva Augusto A

Oncogene 20180409 27

Cellular components of solid tumors including DNA are released into the bloodstream, but data on circulating-free DNA (cfDNA) in hepatocellular carcinoma (HCC) are still scarce. This study aimed at analyzing mutations in cfDNA and their correlation with tissue mutations in patients with HCC. We included 8 HCC patients treated with surgical resection for whom we collected paired tissue and plasma/serum samples. We analyzed 45 specimens, including multiregional tumor tissue sampling (n = 24), peri ...[more]

PMID: 29628508

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