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Article

Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

Cellular oncology : the official journal of the International Society for Cellular Oncology - 1 Jan 2010

Hermsen Mario A, Sevilla María A, Llorente José Luis, Weiss Marjan M, Grimbergen Anneliese, Allonca Eva, Garcia-Inclán Cristina, Balbín Milagros, Suárez Carlos

Abstract excerpt

BACKGROUND: Head and neck paraganglioma (PGL) are benign tumors that can cause important direct or surgery induced morbidity. Almost all familial and 11-29% of sporadic PGL are caused by inactivating germline mutations in succinate dehydrogenase (SDH) genes. Our aim was to screen for such mutations and to evaluate clinical parameters as predictors of germline mutation. METHODS: Seventy-four PGL patients were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 20208144
DOI: 10.3233/CLO-2009-0498
PMCID: PMC4619289

Genes

SDHB
SDHD
RET
VHL

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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