HBV VIS Detail Information

> This page shows VIS [1017340] detail information, including site information (chromosome, GRCh38 location, disease, sample, etc) and literature information.

Site Information

DVID	1017340
VISID	TVIS10017443
Chromosome	chr19
GRCh38 Location	29809543
Disease	Carcinoma, Hepatocellular
Sample	Tumor
Virus Reference Genome	X02763
Target Gene	CCNE1

Literature Information

PubMed PMID	30531861
Year	2018 Dec 7;9(1):5235
Journal	Nature communications
Title	Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress.
Author	Bayard Q,Meunier L,Peneau C,Renault V,Shinde J,Nault JC,Mami I,Couchy G,Amaddeo G,Tubacher E,Bacq D,Meyer V,La Bella T,Debaillon-Vesque A,Bioulac-Sage P,Seror O,Blanc JF,Calderaro J,Deleuze JF,Imbeaud S,Zucman-Rossi J,Letouze E
Evidence	Cyclins A2 and E1 regulate the cell cycle by promoting S phase entry and progression. Here, we identify a hepatocellular carcinoma (HCC) subgroup exhibiting cyclin activation through various mechanisms including hepatitis B virus (HBV) and adeno-associated virus type 2 (AAV2) insertions, enhancer hijacking and recurrent CCNA2 fusions. Cyclin A2 or E1 alterations define a homogenous entity of aggressive HCC, mostly developed in non-cirrhotic patients, characterized by a transcriptional activation of E2F and ATR pathways and a high frequency of RB1 and PTEN inactivation. Cyclin-driven HCC display a unique signature of structural rearrangements with hundreds of tandem duplications and templated insertions frequently activating TERT promoter. These rearrangements, strongly enriched in early-replicated active chromatin regions, are consistent with a break-induced replication mechanism. Pan-cancer analysis reveals a similar signature in BRCA1-mutated breast and ovarian cancers. Together, this analysis reveals a new poor prognosis HCC entity and a rearrangement signature related to replication stress.