Abstract:
:Elucidating the molecular basis of hepatocellular carcinoma (HCC) is crucial to developing targeted diagnostics and therapies for this deadly disease. The landscape of somatic genomic rearrangements (GRs), which can lead to oncogenic gene fusions, remains poorly characterized in HCC. We have predicted 4314 GRs including large-scale insertions, deletions, inversions and translocations based on the whole-genome sequencing data for 88 primary HCC tumor/non-tumor tissues. We identified chromothripsis in 5 HCC genomes (5.7%) recurrently affecting chromosomal arms 1q and 8q. Albumin (ALB) was found to harbor GRs, deactivating mutations and deletions in 10% of cohort. Integrative analysis identified a pattern of paired intra-chromosomal translocations flanking focal amplifications and asymmetrical patterns of copy number variation flanking breakpoints of translocations. Furthermore, we predicted 260 gene fusions which frequently result in aberrant over-expression of the 3' genes in tumors and validated 18 gene fusions, including recurrent fusion (2/88) of ABCB11 and LRP2.
journal_name
Genomicsjournal_title
Genomicsauthors
Fernandez-Banet J,Lee NP,Chan KT,Gao H,Liu X,Sung WK,Tan W,Fan ST,Poon RT,Li S,Ching K,Rejto PA,Mao M,Kan Zdoi
10.1016/j.ygeno.2014.01.003subject
Has Abstractpub_date
2014-02-01 00:00:00pages
189-203issue
2-3eissn
0888-7543issn
1089-8646pii
S0888-7543(14)00004-4journal_volume
103pub_type
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