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RNA-seq, WGS and WES of Hepatocellular carcinomas, enriched in fibrolamellar carcinomas

DNAJB1-PRKACA fusion is a specific driver event in fibrolamellar carcinoma (FLC), a rare subtype of hepatocellular carcinoma (HCC) occurring in adolescents and young adults. In older patients, molecular determinants of HCC with mixed histological features of HCC and FLC (mixed-FLC/HCC) remain to be discovered.This study aims to molecularly caracterize mixed fibrolamellar hepatocellular carcinoma (mixed FLC/HCC) within the molecular liver tumors diversity, in respect of pure FLC and different HCC subtypes. This study reunites WGS data (n=3, Tumoral/Non-Tumoral pairs), WES data (n=43, Tumoral/Non-Tumoral pairs) and RNAseq data (n=66, Tumoral only). On a trascriptomic level, most of the mixed-FLC/HCC RNAseq clustered in a robust subgroup of tumors all showing mutation or translocation inactivating BAP1 that codes for the BRCA1 associated protein-1.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001005308 Illumina HiSeq 2000 Illumina HiSeq 4000 112
Publications Citations
BAP1 mutations define a homogeneous subgroup of hepatocellular carcinoma with fibrolamellar-like features and activated PKA.
J Hepatol 72: 2020 924-936
26
Corrigendum to: "BAP1 mutations define a homogeneous subgroup of hepatocellular carcinoma with fibrolamellar-like features and activated PKA" [J Hepatol (2020) 1-13].
J Hepatol 73: 2020 225-226
0
Hepatitis B virus integrations promote local and distant oncogenic driver alterations in hepatocellular carcinoma.
Gut 71: 2022 616-626
79
Preneoplastic liver colonization by 11p15.5 altered mosaic cells in young children with hepatoblastoma.
Nat Commun 14: 2023 7122
0