Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.

doi:10.1093/hmg/ddt639

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

Community

Back to search

Article

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.

Human molecular genetics - 1 May 2014

Castro-Vega Luis Jaime, Buffet Alexandre, De Cubas Aguirre A, Cascón Alberto, Menara Mélanie, Khalifa Emmanuel, Amar Laurence, Azriel Sharona, Bourdeau Isabelle, Chabre Olivier, Currás-Freixes Maria, Franco-Vidal Valérie, Guillaud-Bataille Marine, Simian Christophe, Morin Aurélie, Letón Rocío, Gómez-Graña Alvaro, Pollard Patrick J, Rustin Pierre, Robledo Mercedes, Favier Judith, Gimenez-Roqueplo Anne-Paule

Abstract excerpt

Malignant pheochromocytoma (PCC) and paraganglioma (PGL) are mostly caused by germline mutations of SDHB, encoding a subunit of succinate dehydrogenase. Using whole-exome sequencing, we recently identified a mutation in the FH gene encoding fumarate hydratase, in a PCC with an 'SDH-like' molecular phenotype. Here, we investigated the role of FH in PCC/PGL predisposition, by screening for germline FH mutations in...

Read the complete abstract on PubMed

Topics

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

Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child

Share to Exons

Share to Fumarate Hydratase

Share to Germ-Line Mutation

Share to Paraganglioma

Share to Pheochromocytoma

Share to Young Adult

Source

Open in PubMed

Identifiers

PMID: 24334767
DOI: 10.1093/hmg/ddt639

Genes

SDHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.PMID 24334767Read ↗

Germline FH Mutations Presenting With PheochromocytomaSemantic proximity Read ↗

Epigenetic Mutation of the Succinate Dehydrogenase C Promoter in a Patient With Two Paragangliomas.Semantic proximity Read ↗

On the association of succinate dehydrogenase mutations with hereditary paraganglioma.Semantic proximity Read ↗

Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.Semantic proximity Read ↗

SDHC Promoter Methylation, a Novel Pathogenic Mechanism in Parasympathetic Paragangliomas.Semantic proximity Read ↗

15 YEARS OF PARAGANGLIOMA: Genetics and mechanism of pheochromocytoma–paraganglioma syndromes characterized by germline SDHB and SDHD mutationsSemantic proximity Read ↗

Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patientsSemantic proximity Read ↗

Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma.Semantic proximity Read ↗

Back to Biochemistry: Evaluation for and Prognostic Significance of SDH Mutations in Paragangliomas and Pheochromocytomas.Semantic proximity Read ↗

Clinical and molecular progress in hereditary paraganglioma: Figure 1Semantic proximity Read ↗

A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma.Semantic proximity Read ↗

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