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Article

Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.

Journal of hepatology - 1 Oct 2022

Molina Laura, Zhu Junjie, Trépo Eric, Bayard Quentin, Amaddeo Giuliana, Blanc Jean-Frédéric, Calderaro Julien, Ma Xiaochao, Zucman-Rossi Jessica, Letouzé Eric

Abstract excerpt

BACKGROUND & AIMS: Acute intermittent porphyria (AIP), caused by heterozygous germline mutations of the heme synthesis pathway enzyme HMBS (hydroxymethylbilane synthase), confers a high risk of hepatocellular carcinoma (HCC) development. Yet, the role of HMBS in liver tumorigenesis remains unclear. METHODS: Herein, we explore HMBS alterations in a large series of 758 HCC cases, including 4 patients with AIP. We...

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Identifiers

PMID: 35636578
DOI: 10.1016/j.jhep.2022.05.018
PMCID: PMC10061578

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.

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