Published online Jun 25, 2023. doi: 10.5501/wjv.v12.i3.209
Peer-review started: December 28, 2022
First decision: January 17, 2023
Revised: February 12, 2023
Accepted: April 12, 2023
Article in press: April 12, 2023
Published online: June 25, 2023
Processing time: 174 Days and 17 Hours
Hepatitis B virus (HBV) is a major cause of hepatocellular carcinoma (HCC). HBV DNA can get integrated into the hepatocyte genome to promote carcinogenesis. However, the precise mechanism by which the integrated HBV genome promotes HCC has not been elucidated.
To analyze the features of HBV integration in HCC using a new reference database and integration detection method.
Published data, consisting of 426 Liver tumor samples and 426 paired adjacent non-tumor samples, were re-analyzed to identify the integration sites. Genome Reference Consortium Human Build 38 (GRCh38) and Telomere-to-Telomere Consortium CHM13 (T2T-CHM13 (v2.0)) were used as the human reference genomes. In contrast, human genome 19 (hg19) was used in the original study. In addition, GRIDSS VIRUSBreakend was used to detect HBV integration sites, whereas high-throughput viral integration detection (HIVID) was applied in the original study (HIVID-hg19).
A total of 5361 integration sites were detected using T2T-CHM13. In the tumor samples, integration hotspots in the cancer driver genes, such as TERT and KMT2B, were consistent with those in the original study. GRIDSS VIRUSBreakend detected integrations in more samples than by HIVID-hg19. Enrichment of integration was observed at chromosome 11q13.3, including the CCND1 pro-moter, in tumor samples. Recurrent integration sites were observed in mitochondrial genes.
GRIDSS VIRUSBreakend using T2T-CHM13 is accurate and sensitive in detecting HBV integration. Re-analysis provides new insights into the regions of HBV integration and their potential roles in HCC development.
Core Tip: To understand the role of hepatitis B virus (HBV) in hepatocellular carcinoma (HCC) development, we re-analyzed HBV integration sites using publicly available data. We found that chromosome 11q13.3 is a frequently observed HBV integration site. This region contains important cancer driver genes, such as CCND1 and FGF19, which are amplified in HCC. This finding supports a mechanism of carcinogenesis promoted by HBV-induced genomic instability in the liver and provides insights into treating a subset of liver cancers.