Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations.

Journal of hepatology - 1 Nov 2014

Vilarinho Sílvia, Erson-Omay E Zeynep, Harmanci Akdes Serin, Morotti Raffaella, Carrion-Grant Geneive, Baranoski Jacob, Knisely A S, Ekong Udeme, Emre Sukru, Yasuno Katsuhito, Bilguvar Kaya, Günel Murat

Abstract excerpt

Hepatocellular carcinoma (HCC) rarely occurs in childhood. We describe a patient with new onset of pruritus at 8 months of age who at 17 months of age was found to have a 2.5 cm HCC. To delineate the possible genetic basis of this tumour, we performed whole exome sequencing (WES) of the germline DNA and identified two novel predictably deleterious missense mutations in ABCB11, encoding bile salt export pump...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
Share to ATP-Binding Cassette Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to beta Catenin

Share to Carcinoma, Hepatocellular

Share to Cholestasis, Intrahepatic

Share to Germ-Line Mutation

Share to Liver Neoplasms

Share to NF-E2-Related Factor 2

Source

Identifiers

PMID: 25016225
DOI: 10.1016/j.jhep.2014.07.003

Genes

ABCB11
CTNNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations.PMID 25016225Read ↗

Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.Semantic proximity Read ↗

The genomic landscape of hepatoblastoma and their progenies with HCC-like features.Semantic proximity Read ↗

Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.Semantic proximity Read ↗

Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population.Semantic proximity Read ↗

Genomic analysis of fibrolamellar hepatocellular carcinomaSemantic proximity Read ↗

Landscape of Somatic Alterations in Thai Pediatric Hepatoblastoma: Implications for Clinical Outcomes and Therapeutic Opportunities.Semantic proximity Read ↗

Characterisation of the cell line HC-AFW1 derived from a pediatric hepatocellular carcinoma.Semantic proximity Read ↗

Novel CTNNB1 gene mutations reveal critical pathogenic mechanisms in pediatric hepatoblastomaSemantic proximity Read ↗

Hepatoblastoma state of the art: pathology, genetics, risk stratification, and chemotherapy.Semantic proximity Read ↗

Novel findings from family-based exome sequencing for children with biliary atresia.Semantic proximity Read ↗

Novel Findings From Family-based Exome Sequencing for Children With Biliary AtresiaSemantic proximity Read ↗

Undifferentiated embryonal sarcoma of the liver in a child: A whole exome sequencing analysis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.