Publication
Paraganglioma in a 13-year-old girl: a novel SDHB gene mutation in the family?
Authors not recorded
Cancer Genet Cytogenet2010PMID 20193854stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
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Linked entities
Linked entities (3)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 3
- cancerParagangliomacivic_curation1.00
- geneSDHBcivic_curation1.00
- variantSDHB p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC)civic_curation1.00
Curated evidence
Evidence citing this paper (1)
civicProvenance
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 20193854
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| SDHB p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC)1 | ||||||||
| (predisposing) | Paraganglioma | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID6442An in-frame duplication of 12 nucleotides resulting in the insertion of 4 amino acids within exon 6 of the SDHB gene was found in a single female case (a 13-year-old) with confirmed paraganglioma. The… (full text at CIViC) PMID 20193854 · Musil et al., 2010 · Open in CIViC | civic |