Publication
Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (2)
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 2
- geneVHLcivic_curation1.00
- variantVHL Y98H (c.292T>C)civic_curation1.00
Curated evidence
Evidence citing this paper (3)
- 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
- 25883647
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL H125P (c.374A>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5808Genetic analysis of 21 patients with known germline mutations in an inherited pheochromocytoma/paraganglioma gene, ten of which were in the VHL gene. This mutation was found in a patient with pheochro… (full text at CIViC) PMID 25883647 · Luchetti et al., 2015 · Open in CIViC | civic |
| VHL P81S (c.241C>T)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | submitted | EID5806Genetic analysis of 21 patients with known germline mutations in an inherited pheochromocytoma/paraganglioma gene, ten of which were in the VHL gene. This mutation was found in a patient with pheochro… (full text at CIViC) PMID 25883647 · Luchetti et al., 2015 · Open in CIViC | civic |
| VHL Y98H (c.292T>C)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 2 | accepted | EID5807Through Next Generation Sequencing (NGS), PCR and automated Sanger sequencing, genetic analysis of 21 patients with known germline mutations in an inherited pheochromocytoma/paraganglioma gene was don… (full text at CIViC) PMID 25883647 · Luchetti et al., 2015 · Open in CIViC | civic |