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Article

Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients.

Oncogene - 24 Oct 2002

Perren Aurel, Barghorn André, Schmid Sonja, Saremaslani Parvin, Roth Jürgen, Heitz Philipp U, Komminoth Paul

Abstract excerpt

Allelic loss of the long arm of chromosome 11 is frequent in neuroendocrine tumors (NET) of different organs. However, the MEN1 gene on 11q13 is mutated only in a subset of NET and allelic losses on 11q frequently extend to the telomere. In this genetic region lies the tumor suppressor gene SDHD which is associated with hereditary paragangliomas (PGL1). We sought to determine whether SDHD plays a role in the...

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Source

Identifiers

PMID: 12386824
DOI: 10.1038/sj.onc.1205812

Genes

SDHD
MEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients.PMID 12386824Read ↗

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No evidence for involvement of SDHD in neuroblastoma pathogenesis.Semantic proximity Read ↗

Mutations and allelic deletions of the MEN1 gene are associated with a subset of sporadic endocrine pancreatic and neuroendocrine tumors and not restricted to foregut neoplasms.Semantic proximity Read ↗

Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.Semantic proximity Read ↗

The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR.Semantic proximity Read ↗

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Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.Semantic proximity Read ↗

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